Database AIREbase
Version 1.2
File airepub.html
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/AIREbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF72.html
Gene AIRE
Disease autoimmune polyglandular syndrome type 1
OMIM 240300
GDB 567198
Sequence IDRefSeq:D0003; IDRefSeq:C0003; UniProt:O43918;
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID M1L(1a),R257X(71a); standard; MUTATION; HSR,SAND
Accession A0176
Systematic name Allele 1: g.4707A>T, c.1A>T, r.1a>u, p.Met1Leu
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 11
Description Allele 1: A point mutation in the exon 1 altering
Description initiation codon in HSR domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the HSR domain
Date 02-Oct-2006 (Rel. 1, Created)
Date 02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4707
Feature /change: a -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: initiation codon
Feature /loc: IDRefSeq: C0003: 128
Feature /codon: atg -> ttg; 1
Feature /note: predicted to change start codon to position c.268,
Feature /note: resulting in a frameshift of translation
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /loc: UniProt: O43918; AIRE_HUMAN: 1
Feature /change: M -> L
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Poland
Relative AIREbase; A0177 sister
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Malabsorption; Chronic active hepatitis;
//
ID M1L(1b),R257X(71b); standard; MUTATION; HSR,SAND
Accession A0177
Systematic name Allele 1: g.4707A>T, c.1A>T, r.1a>u, p.Met1Leu
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Description Allele 1: A point mutation in the exon 1 altering
Description initiation codon in HSR domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the HSR domain
Date 02-Oct-2006 (Rel. 1, Created)
Date 02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4707
Feature /change: a -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: initiation codon
Feature /loc: IDRefSeq: C0003: 128
Feature /codon: atg -> ttg; 1
Feature /note: predicted to change start codon to position c.268,
Feature /note: resulting in a frameshift of translation
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /loc: UniProt: O43918; AIRE_HUMAN: 1
Feature /change: M -> L
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Poland
Relative AIREbase; A0176 sister
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Chronic
Symptoms active hepatitis;
//
ID M1V(1),M1V(1); standard; MUTATION; HSR,HSR
Accession A0247
Systematic name Allele 1 and 2: g.4707A>G, c.1A>G, r.1a>g, p.Met1Val
Original code 5.II-1
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change in the HSR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19758376
RefAuthors Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A.,
RefAuthors Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S.,
RefAuthors Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel,
RefAuthors F., Zaidi, S. H.
RefTitle Novel and recurrent mutations in the AIRE gene of
RefTitle autoimmune polyendocrinopathy syndrome type 1 (APS1)
RefTitle patients.
RefLoc Clin Genet:431-440 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 4707
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 128
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 1
Feature /change: M -> V
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 4707
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 128
Feature /codon: atg -> gtg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 1
Feature /change: M -> V
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 10
Sex XX
Ethnic origin Saudi Arab
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Alopecia; Keratopathy;
//
ID @L7X19(1),@L7X19(1); standard; MUTATION; HSR,HSR
Accession A0268
Systematic name Allele 1 and 2: g.4726_4727insACGCCGGCTTCTGAGGCTGCACC,
Systematic name c.20_21insACGCCGGCTTCTGAGGCTGCACC,
Systematic name r.20_21insacgccggcuucugaggcugcacc, p.Arg15fsX5
Original code 4/C
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 1 leading to a premature stop codon in the HSR domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18682433
RefAuthors Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J.,
RefAuthors Claasen-van der Grinten, H. L., Bratanic, N., Hovnik,
RefAuthors T., Battelino, T.
RefTitle Detection of a complete autoimmune regulator gene deletion
RefTitle and two additional novel mutations in a cohort of patients
RefTitle with atypical phenotypic variants of autoimmune
RefTitle polyglandular syndrome type 1.
RefLoc Eur J Endocrinol:633-639 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4727
Feature /change: +acgccggctt ctgaggctgc acc
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 148
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 7
Feature /change: L -> LRRLLRLHHA GFX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4727
Feature /change: +acgccggctt ctgaggctgc acc
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 148
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 7
Feature /change: L -> LRRLLRLHHA GFX
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 2
Sex XY
Ethnic origin Slovene
Symptoms Clinical characteristics of patients
Symptoms Mucocutaneous candidiasis;
//
ID R8C(1),L97P(1); standard; MUTATION; HSR,HSR
Accession A0201
Systematic name Allele 1: g.4728C>T, c.22C>T, r.22c>u, p.Arg8Cys
Systematic name Allele 2: g.5414T>C, c.290T>C, r.290u>c, p.Leu97Pro
Original code P25
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 4728
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 149
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 8
Feature /change: R -> C
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 5414
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 417
Feature /codon: ctg -> ccg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 97
Feature /change: L -> P
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 46
Sex XX
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Gonadal failure; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia; Alopecia; Nail dystrophy;
//
ID R8C(2),#A134X146(1); standard; MUTATION; HSR,
Accession A0203
Systematic name Allele 1: g.4728C>T, c.22C>T, r.22c>u, p.Arg8Cys
Systematic name Allele 2: g.5772delC, c.402delC, r.402delc, p.Ser135fsX12
Original code P27
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A frame shift deletion mutation in the exon 3
Description leading to a premature stop codon in the HSR domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 4728
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 149
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 8
Feature /change: R -> C
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 5772
Feature /change: -c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 529
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 134
Feature /change: A -> AQKRLELPRQ QPX
Diagnosis Autoimmune polyglandular syndrome type 1
Age 55
Sex XY
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Alopecia;
Symptoms Presence of autoantibodies
Symptoms 21OH+; SCC+;
//
ID R15C(1),?; standard; MUTATION; HSR,
Accession A0153
Systematic name Allele 1: g.4749C>T, c.43C>T, r.43c>u, p.Arg15Cys
Description Allele 1: A point mutation in the exon 1 leading to
Description an amino acid change in the HSR domain
Date 22-Sep-2006 (Rel. 1, Created)
Date 22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12625412
RefAuthors Sato, K., Nakajima, K., Imamura, H., Deguchi, T.,
RefAuthors Horinouchi, S., Yamazaki, K., Yamada, E., Kanaji, Y.,
RefAuthors Takano, K.
RefTitle A novel missense mutation of AIRE gene in a patient with
RefTitle autoimmune polyendocrinopathy, candidiasis and ectodermal
RefTitle dystrophy (APECED), accompanied with progressive muscular
RefTitle atrophy: case report and review of the literature in
RefTitle japan.
RefLoc Endocr J:625-633 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4749
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 170
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 15
Feature /change: R -> C
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Mongoloid; Japan
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Diabetes
Symptoms mellitus; Mucocutaneous candidiasis; Chronic active
Symptoms hepatitis; Progressive muscular atrophy;
//
ID R15L(1),#L323X373(12); standard; MUTATION; HSR,PHD
Accession A0042
Systematic name Allele 1: g.4750G>T, c.171G>T, p.R15L
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamD,II1
Description Allele 1: point mutation in the exon 1 leading to amino
Description acid change in the HSR domain
Description Allele 2: frameshift deletion in the exon 8 leading to
Description amino acid change in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4750
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 171
Feature /codon: cgc -> ctc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 15
Feature /change: R -> L
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:1; D21S1890:5; D21S1912:1; PKFL:3; D21S171:3;
Haplotype D21S1903:5;
Haplotype Allele 2:
Haplotype D21S49:3; D21S1890:1; D21S1912:4; PKFL:3; D21S171:3;
Haplotype D21S1903:9;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Gonadal
Symptoms failure; Mucocutaneous candidiasis; Autoimmune hepatitis;
Sex XY
Ethnic origin Britain
//
ID R257X(34),@R15X19(1); standard; MUTATION; SAND,HSR
Accession A0104
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.4749_4750ins, c.170_171ins, p.R15fsX19
Original code RC
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: frameshift insertion in the exon 1 leading to a
Description premature stop codon in the HSR domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 4750
Feature /change: +acgccggctt ctgaggctgc acc
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 171
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 15
Feature /change: R -> HAGFX
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:4; PKFL:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Gastritis; Mucocutaneous candidiasis;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH-; SCC+;
Ethnic origin Hungary
Comment -!-General: Dublication of nucleotides
Comment -!-General: EMBL:AB006682:148-170
//
ID R257X(35),@R15X19(2); standard; MUTATION; SAND,HSR
Accession A0106
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.4749_4750ins, c.170_171ins, p.R15fsX19
Original code WM
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: frameshift insertion in the exon 1 leading to a
Description premature stop codon in the HSR domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 4750
Feature /change: +acgccggctt ctgaggctgc acc
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 171
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 15
Feature /change: R -> HAGFX
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:4; PKFL:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Hypergonadotrophic hypogonadism;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH-; SCC-;
Ethnic origin Austria
Comment -!-General: Dublication of nucleotides
Comment -!-General: EMBL:AB006682:148-170
//
ID @R15X19(3),R257X(57); standard; MUTATION; HSR,SAND
Accession A0159
Systematic name Allele 1: g.4749_4750insACGCCGGCTTCTGAGGCTGCACC,
Systematic name c.43_44insACGCCGGCTTCTGAGGCTGCACC,
Systematic name r.43_44insacgccggcuucugaggcugcacc, p.Arg15fsX5
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 8/F
Description Allele 1: A frame shift insertion mutation in the exon 1
Description leading to a premature stop codon in the HSR domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the HSR domain
Date 28-Sep-2006 (Rel. 1, Created)
Date 28-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15886230
RefAuthors Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino,
RefAuthors T.
RefTitle Autoimmune regulator-1 messenger ribonucleic acid analysis
RefTitle in a novel intronic mutation and two additional novel AIRE
RefTitle gene mutations in a cohort of autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 4750
Feature /change: +acgccggctt ctgaggctgc acc
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 171
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 15
Feature /change: R -> HAGFX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Slovenia
Symptoms Clinical characteristics of patients
Symptoms Hypothyroidism; Mucocutaneous candidiasis; Addison's
Symptoms disease; Ectodermal dystrophy;
//
ID @R15X19(4),R257X(100); standard; MUTATION; SAND,HSR
Accession A0261
Systematic name Allele 1: g.4727_4749dup, c.21_43dup, r.21_43dup,
Systematic name p.Arg15fsX5
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code C1
Description Allele 1: A frame shift duplication mutation in the exon 1
Description leading to a premature stop codon in the HSR domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19863576
RefAuthors Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P.,
RefAuthors Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher,
RefAuthors M., Marodi, L.
RefTitle Novel sequence variation of AIRE and detection of
RefTitle interferon-omega antibodies in early infancy.
RefLoc Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AB006684: 4750
Feature /change: +acgccggctt ctgaggctgc acc
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 171
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 15
Feature /change: R -> HAGFX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 8.5
Sex XX
Ethnic origin Hungary
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms Adrenal failure; Autoimmune thyroiditis;;
//
ID R257X(49),T16M(1); standard; MUTATION; SAND,HSR
Accession A0122
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.4753C>T, c.174C>T, p.T16M
Original code M53
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: point mutation in the exon 1 leading to an amino
Description acid change in the HSR domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 174
Feature /codon: acg -> atg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 16
Feature /change: T -> M
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:5p;
Haplotype Allele 2:
Haplotype D21S1912:5m; PKFL:5m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Mucocutaneous candidiasis;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH+; SCC+;
Ethnic origin Russia
//
ID T16M(2a),R257X(56a); standard; MUTATION; HSR,SAND
Accession A0157
Systematic name Allele 1: g.4753C>T, c.47C>T, r.47c>u, p.Thr16Met
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 6/E
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the HSR domain
Date 28-Sep-2006 (Rel. 1, Created)
Date 28-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15886230
RefAuthors Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino,
RefAuthors T.
RefTitle Autoimmune regulator-1 messenger ribonucleic acid analysis
RefTitle in a novel intronic mutation and two additional novel AIRE
RefTitle gene mutations in a cohort of autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 174
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 16
Feature /change: T -> M
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Slovenia
Relative AIREbase; A0158
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms Malabsorption; Ectodermal dystrophy;
//
ID T16M(2b),R257X(56b); standard; MUTATION; HSR,SAND
Accession A0158
Systematic name Allele 1: g.4753C>T, c.47C>T, r.47c>u, p.Thr16Met
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 7/E
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the HSR domain
Date 28-Sep-2006 (Rel. 1, Created)
Date 28-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15886230
RefAuthors Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino,
RefAuthors T.
RefTitle Autoimmune regulator-1 messenger ribonucleic acid analysis
RefTitle in a novel intronic mutation and two additional novel AIRE
RefTitle gene mutations in a cohort of autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4753
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 174
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 16
Feature /change: T -> M
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Slovenia
Relative AIREbase; A0157
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis;
Symptoms Ectodermal dystrophy;
//
ID A21V(1),L323L(1); standard; MUTATION; HSR,PHD
Accession A0267
Systematic name Allele 1: g.4768C>T, c.62C>T, r.62c>u, p.Ala21Val
Systematic name Allele 2: g.9882>, c.967>, r.967>, p.Leu323Leu
Original code 3/B
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 8 leading to an
Description amino acid change in the PHD domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18682433
RefAuthors Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J.,
RefAuthors Claasen-van der Grinten, H. L., Bratanic, N., Hovnik,
RefAuthors T., Battelino, T.
RefTitle Detection of a complete autoimmune regulator gene deletion
RefTitle and two additional novel mutations in a cohort of patients
RefTitle with atypical phenotypic variants of autoimmune
RefTitle polyglandular syndrome type 1.
RefLoc Eur J Endocrinol:633-639 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 4768
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 189
Feature /codon: gcc -> gtc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 21
Feature /change: A -> V
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 9882
Feature /change: ->
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 1094-1106
Feature /codon: ctg -> ctg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323
Feature /change: ->
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 6
Sex XY
Ethnic origin Dutch
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis;
//
ID W78R(8),#V22-2(1); standard; MUTATION; HSR,HSR
Accession A0155
Systematic name Allele 1: g.5356T>A, c.232T>A, r.232u>a, p.Trp78Arg
Systematic name Allele 2: g.4770_4775delGTGGAC, c.64_69delGTGGAC,
Systematic name r.64_69delguggac, p.Val22_Ser24del
Original code Patient 1
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Description Allele 2: An inframe deletion in the exon 1 leading to an
Description amino acid change in the HSR domain
Date 27-Sep-2006 (Rel. 1, Created)
Date 27-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15712268
RefAuthors Meloni, A., Fiorillo, E., Corda, D., Perniola, R., Cao,
RefAuthors A., Rosatelli, M. C.
RefTitle Two novel mutations of the AIRE protein affecting its
RefTitle homodimerization properties.
RefLoc Hum Mutat:319 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 4770..4775
Feature /change: -gtggac
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0003: 191..196
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: O43918; AIRE_HUMAN: 22..23
Feature /change: -VD
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Italy
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Pauciarticular juvenile rheumatoid
Symptoms arhtritis;
//
ID L28P(1),#L417X479(1); standard; MUTATION; HSR,PRR
Accession A0046
Systematic name Allele 1: g.4789T>C, c.210T>C, p.L28P
Systematic name Allele 2: g.11846delC, c.1376delC, p.L417fsX479
Original code FamG,II2
Description Allele 1: point mutation in the exon 1 leading to amino
Description acid change in the HSR domain
Description Allele 2: frameshift deletion in the exon 10 leading to
Description amino acid change in the PRR domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4789
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 210
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 28
Feature /change: L -> P
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 11846
Feature /change: -c
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1376
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 417
Feature /change: L
Feature /change: -> YCVWVLRVSR TWLLVRVAGC AEMVRTCCGV LTAPLPSTGA
Feature /change: ATSQPAPPGP GRACAADPAQ ETX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:2; D21S1890:4; D21S1912:3; PKFL:3; D21S171:2;
Haplotype D21S1903:4;
Haplotype Allele 2:
Haplotype D21S49:2; D21S1890:3; D21S1912:8; PKFL:3; D21S171:3;
Haplotype D21S1903:9;
Symptoms Clinical characteristics of patients
Symptoms Adrenocortical failure; Diabetes mellitus; Mucocutaneous
Symptoms candidiasis; Malabsorption; Red-cell aplasia;
Symptoms Squamous-cell carcinoma of oral mucosa;
Sex XY
Ethnic origin Britain
//
ID L28P(2),?; standard; MUTATION; HSR
Accession A0087
Systematic name Allele 1: g.4789T>C, c.210T>C, p.L28P
Original code 13
Description Allele 1: point mutation in the exon 1 leading to an amino
Description acid change in the HSR domain
Description Allele 2: Not identified
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4789
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 210
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 28
Feature /change: L -> P
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:6; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID L29P(1a),Intron 9(2a); standard; MUTATION; HSR,PRR
Accession A0151
Systematic name Allele 1: g.4792T>C, c.86T>C, r.86u>c, p.Leu29Pro
Systematic name Allele 2: g.IVS9-1G>C, c.1096-1G>C, r.1096-1g>c
Original code Patient 1
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the intron 9 leading to an
Description amino acid change in the HSR domain
Date 22-Sep-2006 (Rel. 1, Created)
Date 22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12173302
RefAuthors Kogawa, K., Kudoh, J., Nagafuchi, S., Ohga, S., Katsuta,
RefAuthors H., Ishibashi, H., Harada, M., Hara, T., Shimizu, N.
RefTitle Distinct clinical phenotype and immunoreactivity in
RefTitle japanese siblings with autoimmune polyglandular syndrome
RefTitle type 1 (APS-1) associated with compound heterozygous novel
RefTitle AIRE gene mutations.
RefLoc Clin Immunol:277-283 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4792
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 213
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 29
Feature /change: L -> P
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 11692
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Mongoloid; Japan
Family history Inherited
Relative AIREbase; A0152; brother
Symptoms Clinical characteristics of patients
Symptoms Diabetes mellitus; Mild nail candidiasis; Autoimmune
Symptoms hepatitis with elevated serum aminotransferase and
Symptoms immunoglobulin G levels; Mycotic paronychia by candida;
//
ID L29P(1b),Intron 9(2b); standard; MUTATION; HSR,PRR
Accession A0152
Systematic name Allele 1: g.4792T>C, c.86T>C, r.86u>c, p.Leu29Pro
Systematic name Allele 2: g.IVS9-1G>C, c.1096-1G>C, r.1096-1g>c
Original code Patient 2
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the intron 9 leading to an
Description amino acid change in the HSR domain
Date 22-Sep-2006 (Rel. 1, Created)
Date 22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12173302
RefAuthors Kogawa, K., Kudoh, J., Nagafuchi, S., Ohga, S., Katsuta,
RefAuthors H., Ishibashi, H., Harada, M., Hara, T., Shimizu, N.
RefTitle Distinct clinical phenotype and immunoreactivity in
RefTitle japanese siblings with autoimmune polyglandular syndrome
RefTitle type 1 (APS-1) associated with compound heterozygous novel
RefTitle AIRE gene mutations.
RefLoc Clin Immunol:277-283 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4792
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 213
Feature /codon: ctg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 29
Feature /change: L -> P
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 11692
Feature /change: g -> c
Feature /genomic_region: intron; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Mongoloid; Japan
Family history Inherited
Relative AIREbase; A0151; sister
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Mucocutaneous candidiasis;
Symptoms Hypoparathyroidism with hypocalcemia and
Symptoms hyperphosphatemia; Mild nail candidiasis; Autoimmune
Symptoms hepatitis with elevated serum aminotransferase and
Symptoms immunoglobulin G levels; Mycotic paronychia by candida;
Symptoms Severe pneumonia;
//
ID @L32X34(1a),@L32X34(1a); standard; MUTATION; HSR,HSR
Accession A0240
Systematic name Allele 1 and 2: g.4799_4800insT, c.93_94insT, r.93_94insu,
Systematic name p.Leu32fsX3
Original code 2.V-2
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 1 leading to a premature stop codon in the HSR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19758376
RefAuthors Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A.,
RefAuthors Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S.,
RefAuthors Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel,
RefAuthors F., Zaidi, S. H.
RefTitle Novel and recurrent mutations in the AIRE gene of
RefTitle autoimmune polyendocrinopathy syndrome type 1 (APS1)
RefTitle patients.
RefLoc Clin Genet:431-440 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4800
Feature /change: +t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 221
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature /change: L -> SGX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4800
Feature /change: +t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 221
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature /change: L -> SGX
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 11
Sex XY
Ethnic origin Saudi Arab
Relative AIREbase; A0241 cousin
Relative AIREbase; A0242 cousin
Relative AIREbase; A0243 cousin
Relative AIREbase; A0244 cousin
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Diabetes mellitus; Mucocutaneous
Symptoms candidiasis; Alopecia;
//
ID @L32X34(1b),@L32X34(1b); standard; MUTATION; HSR,HSR
Accession A0241
Systematic name Allele 1 and 2: g.4799_4800insT, c.93_94insT, r.93_94insu,
Systematic name p.Leu32fsX3
Original code 2.V-3
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 1 leading to a premature stop codon in the HSR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19758376
RefAuthors Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A.,
RefAuthors Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S.,
RefAuthors Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel,
RefAuthors F., Zaidi, S. H.
RefTitle Novel and recurrent mutations in the AIRE gene of
RefTitle autoimmune polyendocrinopathy syndrome type 1 (APS1)
RefTitle patients.
RefLoc Clin Genet:431-440 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4800
Feature /change: +t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 221
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature /change: L -> SGX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4800
Feature /change: +t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 221
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature /change: L -> SGX
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 2
Sex XY
Ethnic origin Saudi Arab
Relative AIREbase; A0240 cousin
Relative AIREbase; A0242 sister
Relative AIREbase; A0243 brother
Relative AIREbase; A0244 cousin
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Hypothyroidism;
//
ID @L32X34(1c),@L32X34(1c); standard; MUTATION; HSR,HSR
Accession A0242
Systematic name Allele 1 and 2: g.4799_4800insT, c.93_94insT, r.93_94insu,
Systematic name p.Leu32fsX3
Original code 2.V-4
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 1 leading to a premature stop codon in the HSR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19758376
RefAuthors Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A.,
RefAuthors Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S.,
RefAuthors Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel,
RefAuthors F., Zaidi, S. H.
RefTitle Novel and recurrent mutations in the AIRE gene of
RefTitle autoimmune polyendocrinopathy syndrome type 1 (APS1)
RefTitle patients.
RefLoc Clin Genet:431-440 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4800
Feature /change: +t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 221
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature /change: L -> SGX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4800
Feature /change: +t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 221
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature /change: L -> SGX
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 12
Sex XX
Ethnic origin Saudi Arab
Relative AIREbase; A0240 cousin
Relative AIREbase; A0241 brother
Relative AIREbase; A0243 brother
Relative AIREbase; A0244 cousin
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Mucocutaneous candidiasis; Alopecia; Nephrocalcinosis;
//
ID @L32X34(1d),@L32X34(1d); standard; MUTATION; HSR,HSR
Accession A0243
Systematic name Allele 1 and 2: g.4799_4800insT, c.93_94insT, r.93_94insu,
Systematic name p.Leu32fsX3
Original code 2.V-5
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 1 leading to a premature stop codon in the HSR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19758376
RefAuthors Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A.,
RefAuthors Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S.,
RefAuthors Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel,
RefAuthors F., Zaidi, S. H.
RefTitle Novel and recurrent mutations in the AIRE gene of
RefTitle autoimmune polyendocrinopathy syndrome type 1 (APS1)
RefTitle patients.
RefLoc Clin Genet:431-440 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4800
Feature /change: +t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 221
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature /change: L -> SGX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4800
Feature /change: +t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 221
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature /change: L -> SGX
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 7
Sex XY
Ethnic origin Saudi Arab
Relative AIREbase; A0240 cousin
Relative AIREbase; A0241 brother
Relative AIREbase; A0242 sister
Relative AIREbase; A0244 cousin
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism;
//
ID @L32X34(1e),@L32X34(1e); standard; MUTATION; HSR,HSR
Accession A0244
Systematic name Allele 1 and 2: g.4799_4800insT, c.93_94insT, r.93_94insu,
Systematic name p.Leu32fsX3
Original code 2.V-11
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 1 leading to a premature stop codon in the HSR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19758376
RefAuthors Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A.,
RefAuthors Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S.,
RefAuthors Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel,
RefAuthors F., Zaidi, S. H.
RefTitle Novel and recurrent mutations in the AIRE gene of
RefTitle autoimmune polyendocrinopathy syndrome type 1 (APS1)
RefTitle patients.
RefLoc Clin Genet:431-440 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4800
Feature /change: +t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 221
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature /change: L -> SGX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AB006684: 4800
Feature /change: +t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 221
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 32
Feature /change: L -> SGX
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 12
Sex XY
Ethnic origin Saudi Arab
Relative AIREbase; A0240 cousin
Relative AIREbase; A0241 cousin
Relative AIREbase; A0242 cousin
Relative AIREbase; A0243 cousin
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Diabetes mellitus; Mucocutaneous
Symptoms candidiasis; Alopecia; Onychosis;
//
ID #L323X373(35),#S64-12(1); standard; MUTATION; PHD,HSR
Accession A0082
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g.5315_5350del, c.318_353del, p.S64del
Original code 8
Description Allele 1: deletion in the exon 8 leading to a premature
Description stop codon in the PHD domain
Description Allele 2: inframe deletion in the exon 2 leading to an
Description amino acid change in the HSR domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 5315..5350
Feature /change: -cctggctgct gacccaggac tccacagcca tcctgg
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0003: 318..353
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: O43918; AIRE_HUMAN: 64..76
Feature /change: SWLLTQDSTA ILD -> Y
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:3; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID @D70X217(1),@D70X217(1); standard; MUTATION; HSR,HSR
Accession A0089
Systematic name Allele 1 and 2: g.5332_5333insCAGG, c.335_336insCAGG,
Systematic name p.D70fsX217
Original code 15
Description Allele 1 and 2: insertion in the exon 2 leading to a
Description premature stop codon in the HSR domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 5333
Feature /change: +cagg
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 336
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 70
Feature /change: D
Feature /change: -> AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP
Feature /change: APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS
Feature /change: KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS
Feature /change: PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 5333
Feature /change: +cagg
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 336
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 70
Feature /change: D
Feature /change: -> AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP
Feature /change: APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS
Feature /change: KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS
Feature /change: PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:6; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:6; PKFL:5;
Ethnic origin Arabian
//
ID @D70X217(2),@D70X217(2); standard; MUTATION; HSR,HSR
Accession A0245
Systematic name Allele 1 and 2: g.5329_5332dup, c.205_208dup, r.205_208dup,
Systematic name p.Asp70fsX148
Original code 3.II-5
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 2 leading to a premature stop codon in the HSR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19758376
RefAuthors Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A.,
RefAuthors Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S.,
RefAuthors Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel,
RefAuthors F., Zaidi, S. H.
RefTitle Novel and recurrent mutations in the AIRE gene of
RefTitle autoimmune polyendocrinopathy syndrome type 1 (APS1)
RefTitle patients.
RefLoc Clin Genet:431-440 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AB006684: 5333
Feature /change: +cagg
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 336
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 70
Feature /change: D ->
Feature /change: AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP
Feature /change: APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS
Feature /change: KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS
Feature /change: PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: EMBL: AB006684: 5333
Feature /change: +cagg
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 336
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 70
Feature /change: D ->
Feature /change: AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP
Feature /change: APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS
Feature /change: KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS
Feature /change: PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 6
Sex XX
Ethnic origin Saudi Arab
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism;
//
ID @D70X217(3),@D70X217(3); standard; MUTATION; HSR,HSR
Accession A0246
Systematic name Allele 1 and 2: g.5329_5332dup, c.205_208dup, r.205_208dup,
Systematic name p.Asp70fsX148
Original code 4.II-1
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 2 leading to a premature stop codon in the HSR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19758376
RefAuthors Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A.,
RefAuthors Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S.,
RefAuthors Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel,
RefAuthors F., Zaidi, S. H.
RefTitle Novel and recurrent mutations in the AIRE gene of
RefTitle autoimmune polyendocrinopathy syndrome type 1 (APS1)
RefTitle patients.
RefLoc Clin Genet:431-440 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AB006684: 5333
Feature /change: +cagg
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 336
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 70
Feature /change: D ->
Feature /change: AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP
Feature /change: APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS
Feature /change: KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS
Feature /change: PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: EMBL: AB006684: 5333
Feature /change: +cagg
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 336
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 70
Feature /change: D ->
Feature /change: AGLHSHPGLL EGAVQGLQPG ALWPAAAHPG QLPQRCGPQP
Feature /change: APEGEEAPGR PQGFGTATQT PHQEEGLRRG SSCRASSPDS
Feature /change: KGHRQPRLST EGQAPQEAGE QRRAAAPSTR ERDSDHVSFS
Feature /change: PESCGHVLRG RPGSPRGRGG DPHPAGVX
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 35
Sex XY
Ethnic origin Saudi Arab
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Nephrocalcinosis;
//
ID F77S(1),Intron 8(1); standard; MUTATION; HSR,PHD
Accession A0156
Systematic name Allele 1: g.5354T>C, c.230T>C, r.230u>c, p.Phe77Ser
Systematic name Allele 2: g.IVS8+5G>T, c.995+5G>T, r.995+5g>u
Original code Patient 2
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the intron 8 leading to an
Description amino acid change in the HSR domain
Date 27-Sep-2006 (Rel. 1, Created)
Date 27-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15712268
RefAuthors Meloni, A., Fiorillo, E., Corda, D., Perniola, R., Cao,
RefAuthors A., Rosatelli, M. C.
RefTitle Two novel mutations of the AIRE protein affecting its
RefTitle homodimerization properties.
RefLoc Hum Mutat:319 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5354
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 357
Feature /codon: ttc -> tcc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 77
Feature /change: F -> S
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 9915
Feature /change: g -> t
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Sicily
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Adrenal
Symptoms failure;
//
ID R257X(31),W78R(1); standard; MUTATION; SAND,HSR
Accession A0101
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.5356T>A, c.359T>A, p.W78R
Original code TA
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: point mutation in the exon 2 leading to an amino
Description acid change in the HSR domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> agg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:2p; PKFL:5p;
Haplotype Allele 2:
Haplotype D21S1912:5m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Alopecia;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH+; SCC-;
Ethnic origin Czech
//
ID W78R(2a),W78R(2a); standard; MUTATION; HSR,HSR
Accession A0140
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code 1/A
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the HSR domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11836330
RefAuthors Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A.,
RefAuthors Rosatelli, M. C.
RefTitle Delineation of the molecular defects in the AIRE gene in
RefTitle autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy patients from southern italy.
RefLoc J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Italy
Relative AIREbase; A0141 sister
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia; Alopecia; Atrophic
Symptoms gastritis, Tympanic calsifications, Cataract,
Symptoms nephrocalcinosis;
//
ID W78R(2b),W78R(2b); standard; MUTATION; HSR,HSR
Accession A0141
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code 2/A
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the HSR domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11836330
RefAuthors Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A.,
RefAuthors Rosatelli, M. C.
RefTitle Delineation of the molecular defects in the AIRE gene in
RefTitle autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy patients from southern italy.
RefLoc J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Italy
Relative AIREbase; A0140 brother
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Mucocutaneous candidiasis; Enamel hypoplasia; Alopecia;
Symptoms Hypogonadism, Autoimmune hepatitis, Malabsorption,
Symptoms Keratitis;
//
ID W78R(3a),W78R(3a); standard; MUTATION; HSR,HSR
Accession A0142
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code 3/B
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the HSR domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11836330
RefAuthors Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A.,
RefAuthors Rosatelli, M. C.
RefTitle Delineation of the molecular defects in the AIRE gene in
RefTitle autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy patients from southern italy.
RefLoc J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Italy
Relative AIREbase; A0143 brother
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Enamel
Symptoms hypoplasia; Alopecia; Hypogonadism, Atrophic gastritis,
Symptoms Cataract, Nephrocalcinosis;
//
ID W78R(3b),W78R(3b); standard; MUTATION; HSR,HSR
Accession A0143
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code 4/B
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the HSR domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11836330
RefAuthors Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A.,
RefAuthors Rosatelli, M. C.
RefTitle Delineation of the molecular defects in the AIRE gene in
RefTitle autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy patients from southern italy.
RefLoc J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Italy
Relative AIREbase; A0142 sister
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia; Alopecia; Cataract;
//
ID W78R(4),W78R(4); standard; MUTATION; HSR,HSR
Accession A0144
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code 5/C
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the HSR domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11836330
RefAuthors Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A.,
RefAuthors Rosatelli, M. C.
RefTitle Delineation of the molecular defects in the AIRE gene in
RefTitle autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy patients from southern italy.
RefLoc J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Italy
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia; Tympanic calsifications,
Symptoms Cataract;
//
ID W78R(5),Q358X(1); standard; MUTATION; HSR,PRR
Accession A0145
Systematic name Allele 1: g.5356T>A, c.232T>A, r.232u>a, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code 6/D
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 9 leading to a
Description premature stop codon in the HSR domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11836330
RefAuthors Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A.,
RefAuthors Rosatelli, M. C.
RefTitle Delineation of the molecular defects in the AIRE gene in
RefTitle autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy patients from southern italy.
RefLoc J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 11078
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 1199
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 358
Feature /change: Q -> X
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Mucocutaneous candidiasis; Enamel hypoplasia; Vitiligo;
Symptoms Alopecia; Autoimmune hepatitis, Tympanic calsifications,
Symptoms Cataract;
//
ID W78R(6a),Q358X(2a); standard; MUTATION; HSR,PRR
Accession A0146
Systematic name Allele 1: g.5356T>A, c.232T>A, r.232u>a, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code 7/E
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 9 leading to a
Description premature stop codon in the HSR domain
Date 22-Sep-2006 (Rel. 1, Created)
Date 22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11836330
RefAuthors Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A.,
RefAuthors Rosatelli, M. C.
RefTitle Delineation of the molecular defects in the AIRE gene in
RefTitle autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy patients from southern italy.
RefLoc J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 11078
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 1199
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 358
Feature /change: Q -> X
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative AIREbase; A0147 brother
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Mucocutaneous candidiasis; Enamel hypoplasia;
Symptoms hypogonadism, Cataract;
//
ID W78R(6b),Q358X(2b); standard; MUTATION; HSR,PRR
Accession A0147
Systematic name Allele 1: g.5356T>A, c.232T>A, r.232u>a, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code 8/E
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 9 leading to a
Description premature stop codon in the HSR domain
Date 22-Sep-2006 (Rel. 1, Created)
Date 22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11836330
RefAuthors Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A.,
RefAuthors Rosatelli, M. C.
RefTitle Delineation of the molecular defects in the AIRE gene in
RefTitle autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy patients from southern italy.
RefLoc J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 11078
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 1199
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 358
Feature /change: Q -> X
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative AIREbase; A0146 brother
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia; hypogonadism
Symptoms (prepubertal age);
//
ID W78R(7),P252L(1); standard; MUTATION; HSR,SAND
Accession A0148
Systematic name Allele 1: g.5356T>A, c.232T>A, r.232u>a, p.Trp78Arg
Systematic name Allele 2: g.8459C>T, c.755C>T, r.755c>u, p.Pro252Leu
Original code 9/F
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 6 leading to an
Description amino acid change in the HSR domain
Date 22-Sep-2006 (Rel. 1, Created)
Date 22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11836330
RefAuthors Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A.,
RefAuthors Rosatelli, M. C.
RefTitle Delineation of the molecular defects in the AIRE gene in
RefTitle autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy patients from southern italy.
RefLoc J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5356
Feature /change: t -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 359
Feature /codon: tgg -> agg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8459
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 882
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 252
Feature /change: P -> L
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Italy
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Mucocutaneous candidiasis; Enamel hypoplasia; Alopecia;
Symptoms Malabsorption; Atrophic gastritis; Pernicious anemia;
Symptoms Autoimmune hepatitis; Keratitis;
//
ID W78R(9),W78R(9); standard; MUTATION; HSR,HSR
Accession A0234
Systematic name Allele 1 and 2: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Original code Case18
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the HSR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 359
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 359
Feature /codon: tgg -> cgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Alopecia; Malignant melanoma;
Symptoms Cancer of the oesophagus;
Comment Patient died at the age of 43.
//
ID W78R(10),Q358X(3); standard; MUTATION; HSR,PRR
Accession A0235
Systematic name Allele 1: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code Case19
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 9 leading to a
Description premature stop codon in the PRR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 359
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 11078
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 1199
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 358
Feature /change: Q -> X
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 21
Sex XY
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Juvenile rheumatoid arthritis;
Symptoms Hashimoto's thyroiditis; Hypogonadism;
//
ID W78R(11),Q358X(4); standard; MUTATION; HSR,PRR
Accession A0236
Systematic name Allele 1: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code Case20
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 9 leading to a
Description premature stop codon in the PRR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 359
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 11078
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 1199
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 358
Feature /change: Q -> X
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 16
Sex XY
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Chronic candidiasis;
//
ID W78R(12),Q358X(5); standard; MUTATION; HSR,PRR
Accession A0237
Systematic name Allele 1: g.5356T>C, c.232T>C, r.232u>c, p.Trp78Arg
Systematic name Allele 2: g.11078C>T, c.1072C>T, r.1072c>u, p.Gln358X
Original code Case21
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 9 leading to a
Description premature stop codon in the PRR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 5356
Feature /change: t -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 359
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 78
Feature /change: W -> R
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 11078
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 1199
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 358
Feature /change: Q -> X
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 21
Sex XY
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Vitiligo; Alopecia;
Symptoms Hashimoto's thyroiditis; Chronic active hepatitis;
//
ID V80G(1),V80G(1); standard; MUTATION; HSR,HSR
Accession A0249
Systematic name Allele 1 and 2: g.5363T>G, c.239T>G, r.239u>g, p.Val80Gly
Original code P.1
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the HSR domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19807739
RefAuthors Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani,
RefAuthors N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G.,
RefAuthors Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc Clin Genet:441-448 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 5363
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 366
Feature /codon: gtg -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 80
Feature /change: V -> G
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 5363
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 366
Feature /codon: gtg -> ggg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 80
Feature /change: V -> G
Feature /domain: HSR
Diagnosis Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis dystrophy (APECED)
Age 24
Sex XX
Parents Consanguineous
Ethnic origin India
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Alopecia;
Symptoms Candidiasis; Premature ovarian failure;;
Comment Two siblings of the patient had died.
//
ID V80G(2),V80G(2); standard; MUTATION; HSR,HSR
Accession A0250
Systematic name Allele 1 and 2: g.5363T>G, c.239T>G, r.239u>g, p.Val80Gly
Original code P.2
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change in the HSR domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19807739
RefAuthors Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani,
RefAuthors N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G.,
RefAuthors Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc Clin Genet:441-448 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 5363
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 366
Feature /codon: gtg -> ggg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 80
Feature /change: V -> G
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 5363
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 366
Feature /codon: gtg -> ggg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 80
Feature /change: V -> G
Feature /domain: HSR
Diagnosis Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis dystrophy (APECED)
Age 11
Sex XX
Parents Non consanguineous
Ethnic origin India
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Candidiasis; ;
//
ID K83E(1),R257X(5); standard; MUTATION; SAND,HSR
Accession A0005
Systematic name Allele 1: g.5371A>G, c.374A>G, p.K83E
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code NP
Description Allele 1: missense mutation in the exon 2 leading to stop
Description codon in the HSR domain
Description Allele 2: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Date 19-Oct-2001 (Rel. 1, Created)
Date 19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9398839
RefAuthors Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J.,
RefAuthors Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D.,
RefAuthors Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa,
RefAuthors S., Ito, F., Shimizu, N.
RefTitle Positional cloning of the APECED gene.
RefLoc Nat Genet 17:393-398 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5371
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 374
Feature /codon: aag -> gag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 83
Feature /change: K -> E
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype JA-I:4; D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype JA-I:4; D21S1912:7; PKFL:5;
Ethnic origin Caucasoid; Finland
//
ID R257X(18a),Y90C(1a); standard; MUTATION; SAND,HSR
Accession A0043
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.5393A>G, c.396A>G, p.Y90C
Original code FamE,II2
Description Allele 1: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Description Allele 2: missense mutation in the exon 2 leading to stop
Description codon in the HSR domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5393
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 396
Feature /codon: tat -> tgt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 90
Feature /change: Y -> C
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:2; D21S1890:3; D21S1912:3; PKFL:1; D21S171:2;
Haplotype D21S1903:9;
Haplotype Allele 2:
Haplotype D21S49:3; D21S1890:9; D21S1912:8; PKFL:4; D21S171:3;
Haplotype D21S1903:3;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis;
Sex XY
Ethnic origin Britain
Relative AIREbase; A0044 brother
//
ID R257X(18b),Y90C(1b); standard; MUTATION; SAND,HSR
Accession A0044
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.5393A>G, c.396A>G, p.Y90C
Original code FamE,II3
Description Allele 1: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Description Allele 2: missense mutation in the exon 2 leading to stop
Description codon in the HSR domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5393
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 396
Feature /codon: tat -> tgt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 90
Feature /change: Y -> C
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:2; D21S1890:3; D21S1912:3; PKFL:1; D21S171:2;
Haplotype D21S1903:9;
Haplotype Allele 2:
Haplotype D21S49:3; D21S1890:9; D21S1912:8; PKFL:4; D21S171:3;
Haplotype D21S1903:3;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Fulminant
Symptoms hepatic failure;
Sex XX
Ethnic origin Britain
Relative AIREbase; A0043 sister
//
ID R92W(1),R257X(83); standard; MUTATION; HSR,SAND
Accession A0214
Systematic name Allele 1: g.5398C>T, c.274C>T, r.274c>u, p.Arg92Trp
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code P1
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18426830
RefAuthors F Magitta, N., Pura, M., S Boe Wolff, A., Vanuga, P.,
RefAuthors Meager, A., M Knappskog, P., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type I in slovakia:
RefTitle relevance of screening patients with autoimmune addison's
RefTitle disease.
RefLoc Eur J Endocrinol:705-709 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 5398
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 401
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 92
Feature /change: R -> W
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Addison's Disease
Age 24
Sex XX
Ethnic origin Slovakia
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Enamel hypoplasia;
Symptoms Presence of autoantibodies
Symptoms AADC-; 17OH-; 21OH+; SCC+; GAD-;
//
ID R92W(2),#L323X373(66); standard; MUTATION; HSR,PHD
Accession A0215
Systematic name Allele 1: g.5398C>T, c.274C>T, r.274c>u, p.Arg92Trp
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P3
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change in the HSR domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18426830
RefAuthors F Magitta, N., Pura, M., S Boe Wolff, A., Vanuga, P.,
RefAuthors Meager, A., M Knappskog, P., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type I in slovakia:
RefTitle relevance of screening patients with autoimmune addison's
RefTitle disease.
RefLoc Eur J Endocrinol:705-709 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 5398
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 401
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 92
Feature /change: R -> W
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 23
Sex XY
Ethnic origin Slovakia
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Gonadal failure; Alopecia; Juvenile
Symptoms chronic arthritis;
Symptoms Presence of autoantibodies
Symptoms AADC-; 17OH+; 21OH+; SCC+; GAD+;
//
ID #L323X373(39a),L93R(1a); standard; MUTATION; PHD,HSR
Accession A0091
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g.5402T>G, c.405T>G, p.L93R
Original code Index patient
Description Allele 1: deletion in the exon 8 leading to a premature
Description stop codon in the PHD domain
Description Allele 2: point mutation in the exon 2 leading to an amino
Description acid change in the HSR domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10084559
RefAuthors Ward, L., Paquette, J., Seidman, E., Huot, C., Alvarez,
RefAuthors F., Crock, P., Delvin, E., Kampe, O., Deal, C.
RefTitle Severe autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy in an adolescent girl with a novel AIRE
RefTitle mutation: response to immunosuppressive therapy.
RefLoc J Clin Endocrinol Metab 84:844-852 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5402
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 405
Feature /codon: ctg -> cgg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 93
Feature /change: L -> R
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:2; PKFL:6; D21S171:6;
Haplotype Allele 2:
Haplotype D21S1912:1; PKFL:4; D21S171:7;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Diabetes mellitus;
Symptoms Mucocutaneous candidiasis; Enamel hypoplasia; Alopecia;
Sex XX
Ethnic origin French Canadian
Relative AIREbase; A0092 sister
//
ID #L323X373(39b),L93R(1b); standard; MUTATION; PHD,HSR
Accession A0092
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g.5402T>G, c.405T>G, p.L93R
Original code Third child
Description Allele 1: deletion in the exon 8 leading to a premature
Description stop codon in the PHD domain
Description Allele 2: point mutation in the exon 2 leading to an amino
Description acid change in the HSR domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10084559
RefAuthors Ward, L., Paquette, J., Seidman, E., Huot, C., Alvarez,
RefAuthors F., Crock, P., Delvin, E., Kampe, O., Deal, C.
RefTitle Severe autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy in an adolescent girl with a novel AIRE
RefTitle mutation: response to immunosuppressive therapy.
RefLoc J Clin Endocrinol Metab 84:844-852 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5402
Feature /change: t -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 405
Feature /codon: ctg -> cgg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 93
Feature /change: L -> R
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:2; PKFL:6; D21S171:6;
Haplotype Allele 2:
Haplotype D21S1912:1; PKFL:4; D21S171:7;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis;
Sex XX
Ethnic origin French Canadian
Relative AIREbase; A0091 sister
//
ID R139X(1a),R139X(1a); standard; MUTATION;
Accession A0022
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.1; II1
Description Allele 1 and 2: point mutation in the exon 3
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:165; JA-I:175; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:119;
Haplotype Allele 2:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:119;
Sex XX
Ethnic origin Italy, Sardinia
Relative AIREbase; A0023 sister
//
ID R139X(1b),R139X(1b); standard; MUTATION;
Accession A0023
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.1; II2
Description Allele 1 and 2: point mutation in the exon 3
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:165; JA-I:175; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:119;
Haplotype Allele 2:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:119;
Sex XX
Ethnic origin Italy, Sardinia
Relative AIREbase; A0022 sister
//
ID R139X(2),R139X(2); standard; MUTATION;
Accession A0024
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.2; II1
Description Allele 1 and 2: point mutation in the exon 3
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Haplotype Allele 2:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Sex XY
Ethnic origin Italy, Sardinia
//
ID R139X(3a),R139X(3a); standard; MUTATION;
Accession A0025
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.3; II6
Description Allele 1 and 2: point mutation in the exon 3
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Haplotype Allele 2:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Sex XY
Ethnic origin Italy, Sardinia
Relative AIREbase; A0026 sister
Relative AIREbase; A0027 nephew
//
ID R139X(3b),R139X(3b); standard; MUTATION;
Accession A0026
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.3; II7
Description Allele 1 and 2: point mutation in the exon 3
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Haplotype Allele 2:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Sex XX
Ethnic origin Italy, Sardinia
Relative AIREbase; A0025 brother
Relative AIREbase; A0027 nephew
//
ID R139X(3c),?; standard; MUTATION;
Accession A0027
Systematic name Allele 1: g.5785C>T, c.542C>T, p.R139X
Original code FAM.3; III2
Description Allele 1: point mutation in the exon 3
Description Allele 2: Not identified
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Haplotype Allele 2:
Haplotype D21S1885:179; D21S1890:151; JA-I:171; D21S1259:224;
Haplotype D21S1912:173; PKFL:133; D21S171:121;
Sex XY
Ethnic origin Italy, Sardinia
Relative AIREbase; A0025; uncle
Relative AIREbase; A0026; aunt
//
ID R139X(4),R139X(4); standard; MUTATION;
Accession A0028
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.4; II2
Description Allele 1 and 2: point mutation in the exon 3
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:169; JA-I:171; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Haplotype Allele 2:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:123;
Sex XX
Ethnic origin Italy, Sardinia
//
ID #L323X373(8),R139X(5); standard; MUTATION; PHD,
Accession A0029
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.5; II2
Description Allele 1: deletion in the exon 8 leading to stop codon in
Description the PHD domain
Description Allele 2: nonsense mutation in the exon 3
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:165; JA-I:171; D21S1259:224;
Haplotype D21S1912:199; PKFL:133; D21S171:119;
Haplotype Allele 2:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:125;
Sex XX
Ethnic origin Italy, Sardinia
//
ID R139X(6),R139X(6); standard; MUTATION;
Accession A0030
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.6; II3
Description Allele 1 and 2: point mutation in the exon 3
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Haplotype Allele 2:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Sex XX
Ethnic origin Italy, Sardinia
//
ID R139X(7),R139X(7); standard; MUTATION;
Accession A0031
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.7; II1
Description Allele 1 and 2: point mutation in the exon 3
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:179; D21S1890:153; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Haplotype Allele 2:
Haplotype D21S1885:167; D21S1890:155; JA-I:173; D21S1259:222;
Haplotype D21S1912:205; PKFL:133; D21S171:121;
Sex XY
Ethnic origin Italy, Sardinia
//
ID R139X(8),R139X(8); standard; MUTATION;
Accession A0032
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.8; II2
Description Allele 1 and 2: point mutation in the exon 3
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Italy, Sardinia
//
ID R139X(9a),R139X(9a); standard; MUTATION;
Accession A0033
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.9; II1
Description Allele 1 and 2: point mutation in the exon 3
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Haplotype Allele 2:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Sex XX
Ethnic origin Italy, Sardinia
Relative AIREbase; A0034 sister
//
ID R139X(9b),R139X(9b); standard; MUTATION;
Accession A0034
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.9; II1
Description Allele 1 and 2: point mutation in the exon 3
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Haplotype Allele 2:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:224;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Sex XX
Ethnic origin Italy, Sardinia
Relative AIREbase; A0033 sister
//
ID R139X(10),R139X(10); standard; MUTATION;
Accession A0035
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code FAM.10; II1
Description Allele 1 and 2: point mutation in the exon 3
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9856486
RefAuthors Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao,
RefAuthors A., Scott, H. S., Peterson, P., Heino, M., Krohn, K. J.,
RefAuthors Nagamine, K., Kudoh, J., Shimizu, N., Antonarakis, S. E.
RefTitle A common mutation in Sardinian autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc Hum Genet 103:428-434 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:222;
Haplotype D21S1912:203; PKFL:133; D21S171:119;
Haplotype Allele 2:
Haplotype D21S1885:165; D21S1890:165; JA-I:173; D21S1259:222;
Haplotype D21S1912:203; PKFL:133; D21S171:121;
Sex XX
Ethnic origin Italy, Sardinia
//
ID R139X(11),R139X(11); standard; MUTATION;
Accession A0125
Systematic name Allele 1 and 2: g.5785C>T, c.542C>T, p.R139X
Original code ME
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:173; PKFL:7;
Haplotype Allele 2:
Haplotype D21S1912:173; PKFL:7;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Keratoconjuctivitis;
Ethnic origin Egypt
//
ID R139X(12),R139X(12); standard; MUTATION;
Accession A0164
Systematic name Allele 1 and 2: g.5785C>T, c.415C>T, r.415c>u, p.Arg139X
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 29-Sep-2006 (Rel. 1, Created)
Date 29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16166780
RefAuthors Tawfik, S., Azim, M. A., Peterson, P., Donaldson, M. D.
RefTitle Autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy presenting with severe keratopathy in an
RefTitle egyptian patient with a homozygous R139X mutation.
RefLoc Horm Res:96-99 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Ethnic origin Caucasoid; Egypt
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Mucocutaneous candidiasis; Alopecia;
Symptoms Keratopathy;
//
ID R139X(13),R139X(13); standard; MUTATION;
Accession A0233
Systematic name Allele 1 and 2: g.5785C>T, c.415C>T, r.415c>u, p.Arg139X
Original code Case12
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyglandular syndrome type 1
Age 58
Sex XX
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Autoimmune Gastritis;
Symptoms Cholelitiasis;
//
ID R139X(14),R139X(14); standard; MUTATION;
Accession A0253
Systematic name Allele 1 and 2: g.5785C>T, c.415C>T, r.415c>u, p.Arg139X
Original code P.5
Description Allele 1 and 2: A point mutation in the exon 3 leading to a
Description premature stop codon
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19807739
RefAuthors Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani,
RefAuthors N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G.,
RefAuthors Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc Clin Genet:441-448 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 542
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 5785
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 542
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 139
Feature /change: R -> X
Diagnosis Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis dystrophy (APECED)
Age 24
Sex XY
Parents Non consanguineous
Ethnic origin India
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Vitiligo; Alopecia;
Symptoms Presence of autoantibodies
Symptoms 21OH+; TPO+;
//
ID P154P(1),R257X(108); standard; MUTATION; ,SAND
Accession A0275
Systematic name Allele 1: g.5832A>T, c.462A>T, r.462a>u, p.Pro154Pro
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 6/F
Description Allele 1: A point mutation in the exon 3 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18682433
RefAuthors Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J.,
RefAuthors Claasen-van der Grinten, H. L., Bratanic, N., Hovnik,
RefAuthors T., Battelino, T.
RefTitle Detection of a complete autoimmune regulator gene deletion
RefTitle and two additional novel mutations in a cohort of patients
RefTitle with atypical phenotypic variants of autoimmune
RefTitle polyglandular syndrome type 1.
RefLoc Eur J Endocrinol:633-639 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 5832
Feature /change: a -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 589
Feature /codon: cca -> cct; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 154
Feature /change: P -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 2
Sex XY
Ethnic origin Serbian
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Alopecia; Malabsorption; Ectodermal
Symptoms dystrophy;;
//
ID Q173X(1),Intron 9(1); standard; MUTATION; ,PRR
Accession A0088
Systematic name Allele 1: g.6270C>T, c.644C>T, p.Q173X
Systematic name Allele 2: g.IVS9-1G>A
Original code 14
Description Allele 1: point mutation in the exon 4 leading to a
Description premature stop codon
Description Allele 2: point mutation in the intron 9 leading to an
Description amino acid change in the PRR domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 6270
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 644
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 173
Feature /change: Q -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 11692
Feature /change: g -> a
Feature /genomic_region: intron; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:2; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:10; PKFL:5;
Ethnic origin Hispanic
//
ID #G180X377(1),R257X(58); standard; MUTATION; ,SAND
Accession A0160
Systematic name Allele 1: g.7046delG, c.540delG, r.540delg, p.Ile181fsX197
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 9/G
Description Allele 1: A frame shift deletion mutation in the exon 5
Description leading to a premature stop codon
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon
Date 28-Sep-2006 (Rel. 1, Created)
Date 28-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15886230
RefAuthors Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino,
RefAuthors T.
RefTitle Autoimmune regulator-1 messenger ribonucleic acid analysis
RefTitle in a novel intronic mutation and two additional novel AIRE
RefTitle gene mutations in a cohort of autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 7046
Feature /change: -g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 667
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 180
Feature /change: G ->
Feature /change: GFRPCQLQSR ELWPCPPGTS REPEGPWRGS SSSRCLSQAA
Feature /change: PRSASRLAGS STLPASSKTP AVGRTRPAAA VARSLWFEPR
Feature /change: EPRALPPVEV RLGWASRAAF PPLWPSPVTP SSTRRMRTSV
Feature /change: PCVGTAGSSS AVTAALGPST WPACPLRSGR SPVGPGGAPA
Feature /change: ACRQQSRRCS PGQRSPGPRS HPWRPRSPRG LGRRERRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Slovenia
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Hypothyroidism; Diabetes mellitus;
Symptoms Mucocutaneous candidiasis; Vitiligo; Alopecia;
//
ID R203X(1),R257X(10); standard; MUTATION; SAND,SAND
Accession A0010
Systematic name Allele 1: g.7113C>T, c.734C>T, p.R203X
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code FamA
Description Allele 1: nonsense mutation in the exon 5 leading to stop
Description codon in the SAND domain
Description Allele 2: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Date 19-Oct-2001 (Rel. 1, Created)
Date 19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 7113
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 734
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 203
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:6;
Haplotype Allele 2:
Haplotype D21S1912:10; PKFL:3;
Ethnic origin Italy
//
ID R203X(2a),R257X(82a); standard; MUTATION; SAND,SAND
Accession A0212
Systematic name Allele 1: g.7113C>T, c.607C>T, r.607c>u, p.Arg203X
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Case 1
Description Allele 1: A point mutation in the exon 5 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18274776
RefAuthors De Luca, F., Valenzise, M., Alaggio, R., Arrigo, T.,
RefAuthors Crisafulli, G., Salzano, G., Cervato, S., Mariniello, B.,
RefAuthors Lazzarotto, F., Betterle, C.
RefTitle Sicilian family with autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy (APECED) and lethal lung
RefTitle disease in one of the affected brothers.
RefLoc Eur J Pediatr (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 7113
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 734
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 6
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative AIREbase; A0213brother
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Pernicious anemia; Nail dystrophy;
Symptoms Malabsorption;
Symptoms Presence of autoantibodies
Symptoms AADC+; TPH+; GAD+;
Comment R257X mutation inherited from father and R203X mutation
Comment from mother
//
ID R203X(2b),R257X(82b); standard; MUTATION; SAND,SAND
Accession A0213
Systematic name Allele 1: g.7113C>T, c.607C>T, r.607c>u, p.Arg203X
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Case 2
Description Allele 1: A point mutation in the exon 5 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 21-Apr-2008 (Rel. 1, Created)
Date 21-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18274776
RefAuthors De Luca, F., Valenzise, M., Alaggio, R., Arrigo, T.,
RefAuthors Crisafulli, G., Salzano, G., Cervato, S., Mariniello, B.,
RefAuthors Lazzarotto, F., Betterle, C.
RefTitle Sicilian family with autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy (APECED) and lethal lung
RefTitle disease in one of the affected brothers.
RefLoc Eur J Pediatr (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 7113
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 734
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative AIREbase; A0212brother
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Gastritis;
Symptoms Mucocutaneous candidiasis; Vitiligo; Nail dystrophy;
Symptoms Presence of autoantibodies
Symptoms AADC+; 21OH+; TPH+;
Comment R257X mutation inherited from father and R203X mutation
Comment from mother
//
ID R203X(3),R257X(91); standard; MUTATION; SAND,SAND
Accession A0223
Systematic name Allele 1: g.7113C>T, c.607C>T, r.607c>u, p.Arg203X
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Case23
Description Allele 1: A point mutation in the exon 5 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 7113
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 734
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Pernicious anemia; Malabsorption;
Symptoms Hashimoto's thyroiditis; Ectodermal dystrophy;
Symptoms Obstructive lung disease;
Comment Patient died at the age of 18.
//
ID R203X(4),R257X(92); standard; MUTATION; SAND,SAND
Accession A0224
Systematic name Allele 1: g.7113C>T, c.607C>T, r.607c>u, p.Arg203X
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Case24
Description Allele 1: A point mutation in the exon 5 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 7113
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 734
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 15
Sex XY
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Autoimmune Gastritis;
Symptoms Vitiligo; Ectodermal dystrophy;
//
ID R203X(5),R203X(5); standard; MUTATION; SAND,SAND
Accession A0232
Systematic name Allele 1 and 2: g.7113C>T, c.607C>T, r.607c>u, p.Arg203X
Original code Case22
Description Allele 1 and 2: A point mutation in the exon 5 leading to a
Description premature stop codon in the SAND domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 7113
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 734
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 7113
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 734
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 203
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 28
Sex XX
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Pernicious anemia; Vitiligo; Nephrocalcinosis;
Symptoms Premature ovarian failure; Epilepsy;
//
ID G228W(1a),=; standard; MUTATION; SAND,
Accession A0134
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code III-1
Description Allele 1: A point mutation in the exon 6 leading to
Description an amino acid change in the SAND domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11600535
RefAuthors Cetani, F., Barbesino, G., Borsari, S., Pardi, E.,
RefAuthors Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle A novel mutation of the autoimmune regulator gene in an
RefTitle italian kindred with autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy, acting in a dominant
RefTitle fashion and strongly cosegregating with hypothyroid
RefTitle autoimmune thyroiditis.
RefLoc J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8386
Feature /change: g -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 809
Feature /codon: ggg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature /change: G -> W
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative AIREbase; A0135; son
Relative AIREbase; A0136; sister
Relative AIREbase; A0137; cousin
Relative AIREbase; A0138; mother
Relative AIREbase; A0139; grandmother
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis;
Symptoms hypothyroid autoimmune thyroiditis (hAT);
Symptoms Presence of autoantibodies
Symptoms GAD-;
Comment The G228W mutation acts in a dominant fashion in this
Comment family
//
ID G228W(1b),=; standard; MUTATION; SAND,
Accession A0135
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code IV-1
Description Allele 1: A point mutation in the exon 6 leading to
Description an amino acid change in the SAND domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11600535
RefAuthors Cetani, F., Barbesino, G., Borsari, S., Pardi, E.,
RefAuthors Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle A novel mutation of the autoimmune regulator gene in an
RefTitle italian kindred with autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy, acting in a dominant
RefTitle fashion and strongly cosegregating with hypothyroid
RefTitle autoimmune thyroiditis.
RefLoc J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8386
Feature /change: g -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 809
Feature /codon: ggg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature /change: G -> W
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative AIREbase; A0134; mother
Relative AIREbase; A0136; aunt
Relative AIREbase; A0137; cousin
Relative AIREbase; A0138; grandmother
Relative AIREbase; A0139; great-grandmother
Symptoms Clinical characteristics of patients
Symptoms Mucocutaneous candidiasis; hypothyroid autoimmune
Symptoms thyroiditis (hAT);
Symptoms Presence of autoantibodies
Symptoms GAD+;
Comment The G228W mutation acts in a dominant fashion in this
Comment family
//
ID G228W(1c),=; standard; MUTATION; SAND,
Accession A0136
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code III-3
Description Allele 1: A point mutation in the exon 6 leading to
Description an amino acid change in the SAND domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11600535
RefAuthors Cetani, F., Barbesino, G., Borsari, S., Pardi, E.,
RefAuthors Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle A novel mutation of the autoimmune regulator gene in an
RefTitle italian kindred with autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy, acting in a dominant
RefTitle fashion and strongly cosegregating with hypothyroid
RefTitle autoimmune thyroiditis.
RefLoc J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8386
Feature /change: g -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 809
Feature /codon: ggg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature /change: G -> W
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative AIREbase; A0134; sister
Relative AIREbase; A0135; nephew
Relative AIREbase; A0137; cousin
Relative AIREbase; A0138; mother
Relative AIREbase; A0139; grandmother
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; hypothyroid autoimmune thyroiditis
Symptoms (hAT);
Symptoms Presence of autoantibodies
Symptoms GAD+;
Comment The G228W mutation acts in a dominant fashion in this
Comment family
//
ID G228W(1d),=; standard; MUTATION; SAND,
Accession A0137
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code III-5
Description Allele 1: A point mutation in the exon 6 leading to
Description an amino acid change in the SAND domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11600535
RefAuthors Cetani, F., Barbesino, G., Borsari, S., Pardi, E.,
RefAuthors Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle A novel mutation of the autoimmune regulator gene in an
RefTitle italian kindred with autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy, acting in a dominant
RefTitle fashion and strongly cosegregating with hypothyroid
RefTitle autoimmune thyroiditis.
RefLoc J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8386
Feature /change: g -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 809
Feature /codon: ggg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature /change: G -> W
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Diagnosis Hypothyroid autoimmune thyroiditis (hAT)
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative AIREbase; A0134; cousin
Relative AIREbase; A0135; second cousin
Relative AIREbase; A0136; cousin
Relative AIREbase; A0138; aunt
Relative AIREbase; A0139; grandmother
Symptoms Presence of autoantibodies
Symptoms GAD-;
Comment The G228W mutation acts in a dominant fashion in this
Comment family
//
ID G228W(1e),=; standard; MUTATION; SAND,SAND
Accession A0138
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code II-1
Description Allele 1: A point mutation in the exon 6 leading to
Description an amino acid change in the SAND domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11600535
RefAuthors Cetani, F., Barbesino, G., Borsari, S., Pardi, E.,
RefAuthors Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle A novel mutation of the autoimmune regulator gene in an
RefTitle italian kindred with autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy, acting in a dominant
RefTitle fashion and strongly cosegregating with hypothyroid
RefTitle autoimmune thyroiditis.
RefLoc J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8386
Feature /change: g -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 809
Feature /codon: ggg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature /change: G -> W
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Diagnosis Hypothyroid autoimmune thyroiditis (hAT)
Sex XX
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative AIREbase; A0134; daughter
Relative AIREbase; A0135; grandson
Relative AIREbase; A0136; daughter
Relative AIREbase; A0137; nephew
Relative AIREbase; A0139; mother
Symptoms Presence of autoantibodies
Symptoms GAD-;
Comment The G228W mutation acts in a dominant fashion in this
Comment family
//
ID G228W(1f),=; standard; MUTATION; SAND,
Accession A0139
Systematic name Allele 1: g.8386G>T, c.682G>T, r.682g>u,
Systematic name p.Gly228Trp
Original code I-1
Description Allele 1: A point mutation in the exon 6 leading to
Description an amino acid change in the SAND domain
Date 21-Sep-2006 (Rel. 1, Created)
Date 21-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11600535
RefAuthors Cetani, F., Barbesino, G., Borsari, S., Pardi, E.,
RefAuthors Cianferotti, L., Pinchera, A., Marcocci, C.
RefTitle A novel mutation of the autoimmune regulator gene in an
RefTitle italian kindred with autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy, acting in a dominant
RefTitle fashion and strongly cosegregating with hypothyroid
RefTitle autoimmune thyroiditis.
RefLoc J Clin Endocrinol Metab:4747-4752 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8386
Feature /change: g -> t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 809
Feature /codon: ggg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 228
Feature /change: G -> W
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no change
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no change
Feature aa; 6
Feature /rnalink: 5
Feature /name: no change
Diagnosis Hypothyroid autoimmune thyroiditis (hAT)
Sex XX
Ethnic origin Caucasoid; Italy
Family history Inherited
Relative AIREbase; A0134; granddaughter
Relative AIREbase; A0135; great-grandson
Relative AIREbase; A0136; granddaughter
Relative AIREbase; A0137; grandson
Relative AIREbase; A0138; daughter
Symptoms Presence of autoantibodies
Symptoms GAD-;
Comment The G228W mutation acts in a dominant fashion in this
Comment family
//
ID R257X(1),R257X(1); standard; MUTATION; SAND,SAND
Accession A0001
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code MP
Description Allele 1 and 2: point mutation in the exon 6 leading to
Description stop codon in the SAND domain
Date 19-Oct-2001 (Rel. 1, Created)
Date 19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9398839
RefAuthors Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J.,
RefAuthors Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D.,
RefAuthors Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa,
RefAuthors S., Ito, F., Shimizu, N.
RefTitle Positional cloning of the APECED gene.
RefLoc Nat Genet 17:393-398 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype JA-I:4; D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype JA-I:4; D21S1912:3; PKFL:5;
Ethnic origin Caucasoid; Finland
//
ID R257X(2),R257X(2); standard; MUTATION; SAND,SAND
Accession A0002
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code RP
Description Allele 1 and 2: point mutation in the exon 6 leading to
Description stop codon in the SAND domain
Date 19-Oct-2001 (Rel. 1, Created)
Date 19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9398839
RefAuthors Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J.,
RefAuthors Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D.,
RefAuthors Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa,
RefAuthors S., Ito, F., Shimizu, N.
RefTitle Positional cloning of the APECED gene.
RefLoc Nat Genet 17:393-398 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype JA-I:4; D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype JA-I:4; D21S1912:3; PKFL:5;
Ethnic origin Caucasoid; Finland
//
ID R257X(3),R257X(3); standard; MUTATION; SAND,SAND
Accession A0003
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code TP
Description Allele 1 and 2: point mutation in the exon 6 leading to
Description stop codon in the SAND domain
Date 19-Oct-2001 (Rel. 1, Created)
Date 19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9398839
RefAuthors Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J.,
RefAuthors Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D.,
RefAuthors Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa,
RefAuthors S., Ito, F., Shimizu, N.
RefTitle Positional cloning of the APECED gene.
RefLoc Nat Genet 17:393-398 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype JA-I:4; D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype JA-I:4; D21S1912:3; PKFL:5;
Ethnic origin Caucasoid; Finland
//
ID R257X(4),R257X(4); standard; MUTATION; SAND,SAND
Accession A0004
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code AP
Description Allele 1 and 2: point mutation in the exon 6 leading to
Description stop codon in the SAND domain
Date 19-Oct-2001 (Rel. 1, Created)
Date 19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9398839
RefAuthors Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J.,
RefAuthors Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D.,
RefAuthors Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa,
RefAuthors S., Ito, F., Shimizu, N.
RefTitle Positional cloning of the APECED gene.
RefLoc Nat Genet 17:393-398 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype JA-I:4; D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype JA-I:4; D21S1912:3; PKFL:5;
Ethnic origin Caucasoid; Finland
//
ID R257X(6),@X546+60(1); standard; MUTATION; SAND,
Accession A0006
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.16426A>T, c.1765A>T, p.546
Original code VP
Description Allele 1: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Description Allele 2: terminator mutation in the exon 14
Date 19-Oct-2001 (Rel. 1, Created)
Date 19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9398839
RefAuthors Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J.,
RefAuthors Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D.,
RefAuthors Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa,
RefAuthors S., Ito, F., Shimizu, N.
RefTitle Positional cloning of the APECED gene.
RefLoc Nat Genet 17:393-398 (1997)
RefNumber [2]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients of different origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 16426
Feature /change: a -> t
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: terminator
Feature /loc: IDRefSeq: C0003: 1765
Feature aa; 6
Feature /rnalink: 5
Feature /name: elongation
Feature /loc: UniProt: O43918; AIRE_HUMAN: 546
Feature /change: X
Feature /change: -> CPQMAGTCSS DERVLRRTPP SSVLEAGRLG SRRGQRHLLS
Feature /change: VLGCKQLCVS GDTSHHVPGN X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype JA-I:4; D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype JA-I:4; D21S1912:5; PKFL:6;
Ethnic origin Caucasoid; Finland
//
ID R257X(7),R257X(7); standard; MUTATION; SAND,SAND
Accession A0007
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code SwP
Description Allele 1 and 2: point mutation in the exon 6 leading to
Description stop codon in the SAND domain
Date 19-Oct-2001 (Rel. 1, Created)
Date 19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9398839
RefAuthors Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J.,
RefAuthors Minoshima, S., Heino, M., Krohn, K. J., Lalioti, M. D.,
RefAuthors Mullis, P. E., Antonarakis, S. E., Kawasaki, K., Asakawa,
RefAuthors S., Ito, F., Shimizu, N.
RefTitle Positional cloning of the APECED gene.
RefLoc Nat Genet 17:393-398 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype JA-I:5; D21S1912:4; PKFL:3;
Haplotype Allele 2:
Haplotype JA-I:5; D21S1912:4; PKFL:3;
Ethnic origin Caucasoid; Switzerland
//
ID R257X(8),@X546+60(2); standard; MUTATION; SAND,
Accession A0008
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.16426A>T, c.1765A>T, p.546
Original code PP
Description Allele 1: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Description Allele 2: terminator mutation in the exon 14
Date 19-Oct-2001 (Rel. 1, Created)
Date 19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 16426
Feature /change: a -> t
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: terminator
Feature /loc: IDRefSeq: C0003: 1765
Feature aa; 6
Feature /rnalink: 5
Feature /name: elongation
Feature /loc: UniProt: O43918; AIRE_HUMAN: 546
Feature /change: X
Feature /change: -> CPQMAGTCSS DERVLRRTPP SSVLEAGRLG SRRGQRHLLS
Feature /change: VLGCKQLCVS GDTSHHVPGN X
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:6;
Ethnic origin Caucasoid; Finland
//
ID R257X(9),#L323X373(1); standard; MUTATION; SAND,PHD
Accession A0009
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code KP
Description Allele 1: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Description Allele 2: frameshift deletion in the exon 8 leading to
Description stop codon in the PHD domain
Date 19-Oct-2001 (Rel. 1, Created)
Date 19-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Ethnic origin Caucasoid; Finland
//
ID R257X(11),R257X(11); standard; MUTATION; SAND,SAND
Accession A0012
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code NITA
Description Allele 1 and 2: point mutation in the exon 6 leading to
Description stop codon in the SAND domain
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Ethnic origin Italy
//
ID R257X(12),R257X(12); standard; MUTATION; SAND,SAND
Accession A0013
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code NITB
Description Allele 1 and 2: point mutation in the exon 6 leading to
Description stop codon in the SAND domain
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:3; PKFL:5;
Ethnic origin Italy
//
ID R257X(13),R257X(13); standard; MUTATION; SAND,SAND
Accession A0014
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code NITC
Description Allele 1 and 2: point mutation in the exon 6 leading to
Description stop codon in the SAND domain
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:3;
Ethnic origin Italy
//
ID R257X(14),R257X(14); standard; MUTATION; SAND,SAND
Accession A0016
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code NITE
Description Allele 1 and 2: point mutation in the exon 6 leading to
Description stop codon in the SAND domain
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:3; PKFL:5;
Ethnic origin Italy
//
ID R257X(15),#L323X373(3); standard; MUTATION; SAND,PHD
Accession A0017
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code NIT-H
Description Allele 1: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Description Allele 2: frameshift deletion in the exon 8 leading to
Description stop codon in the PHD domain
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Ethnic origin Italy
//
ID R257X(16),#L323X373(6); standard; MUTATION; SAND,PHD
Accession A0020
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code AL
Description Allele 1: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Description Allele 2: frameshift deletion in the exon 8 leading to
Description stop codon in the PHD domain
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:2; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:4; PKFL:3;
Ethnic origin Britain
//
ID R257X(17),#L323X373(7); standard; MUTATION; SAND,PHD
Accession A0021
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code MAR
Description Allele 1: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Description Allele 2: frameshift deletion in the exon 8 leading to
Description stop codon in the PHD domain
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:3;
Ethnic origin New Zealand
//
ID R257X(19),R257X(19); standard; MUTATION; SAND,SAND
Accession A0063
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code 113A
Description Allele 1 and 2: point mutation in the exon 6 leading to
Description stop codon in the SAND domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:6; PKFL:7; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:6; PKFL:7; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis;
Sex XX
Ethnic origin Caucasoid; USA
//
ID R257X(20),R257X(20); standard; MUTATION; SAND,SAND
Accession A0064
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code 133A
Description Allele 1 and 2: point mutation in the exon 6 leading to
Description stop codon in the SAND domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:6; PKFL:7; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:7; PKFL:7; D21S171:6;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis;
Sex XY
Ethnic origin Caucasoid; USA
//
ID R257X(21),#L323X373(26); standard; MUTATION; SAND,PHD
Accession A0065
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 109A
Description Allele 1: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Description Allele 2: frameshift deletion in the exon 8 leading to
Description stop codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:6; PKFL:7; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:6; PKFL:5; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Vitiligo; Alopecia; Hashimoto's thyroiditis;
Sex XX
Ethnic origin Caucasoid; USA
//
ID R257X(22),#L323X373(27); standard; MUTATION; SAND,PHD
Accession A0066
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 131A
Description Allele 1: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Description Allele 2: frameshift deletion in the exon 8 leading to
Description stop codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:7; PKFL:9; D21S171:9;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis;
Sex XX
Ethnic origin Caucasoid; USA
//
ID R257X(23),?; standard; MUTATION; SAND
Accession A0067
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code 130A
Description Allele 1: point mutation in the exon 6 leading to stop
Description codon in the SAND domain
Description Allele 2: Not identified
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:6; PKFL:7; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis;
Sex XX
Ethnic origin Caucasoid; USA
//
ID @H415X423(1a),R257X(24a); standard; MUTATION; PRR,SAND
Accession A0072
Systematic name Allele 1: g.11839_11840insA, c.1369_1370insA, p.H415fsX423
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code A
Description Allele 1: insertion in the exon 10 leading to stop codon
Description in the PRR domain
Description Allele 2: nonsense mutation in the exon 6 leading to stop
Description codon in the SAND domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9851752
RefAuthors Myhre, A. G., Bjorses, P., Dalen, A., Husebye, E. S.
RefTitle Three sisters with Addison's disease.
RefLoc J Clin Endocrinol Metab 83:4204-4206 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 11840
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1370
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 415
Feature /change: H -> TPPTVCGSX
Feature /domain: PRR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Vitiligo; Candidiasis; Nail pitting;
Symptoms Presence of autoantibodies
Symptoms AADC-; 21OH+; SCC+;
Sex XX
Ethnic origin Norway
Relative AIREbase; A0073 sister
Relative AIREbase; A0074 sister
//
ID @H415X423(1b),R257X(24b); standard; MUTATION; PRR,SAND
Accession A0073
Systematic name Allele 1: g.11839_11840insA, c.1369_1370insA, p.H415fsX423
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code D
Description Allele 1: insertion in the exon 10 leading to stop codon
Description in the PRR domain
Description Allele 2: nonsense mutation in the exon 6 leading to stop
Description codon in the SAND domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9851752
RefAuthors Myhre, A. G., Bjorses, P., Dalen, A., Husebye, E. S.
RefTitle Three sisters with Addison's disease.
RefLoc J Clin Endocrinol Metab 83:4204-4206 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 11840
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1370
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 415
Feature /change: H -> TPPTVCGSX
Feature /domain: PRR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Addison's disease;
Symptoms Presence of autoantibodies
Symptoms AADC-; 21OH+;
Sex XX
Ethnic origin Norway
Relative AIREbase; A0072 sister
Relative AIREbase; A0074 sister
//
ID @H415X423(1c),R257X(24c); standard; MUTATION; PRR,SAND
Accession A0074
Systematic name Allele 1: g.11839_11840insA, c.1369_1370insA, p.H415fsX423
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code E
Description Allele 1: insertion in the exon 10 leading to stop codon
Description in the PRR domain
Description Allele 2: nonsense mutation in the exon 6 leading to stop
Description codon in the SAND domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9851752
RefAuthors Myhre, A. G., Bjorses, P., Dalen, A., Husebye, E. S.
RefTitle Three sisters with Addison's disease.
RefLoc J Clin Endocrinol Metab 83:4204-4206 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 11840
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1370
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 415
Feature /change: H -> TPPTVCGSX
Feature /domain: PRR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia;
Symptoms Presence of autoantibodies
Symptoms AADC-; 21OH+;
Sex XX
Ethnic origin Norway
Relative AIREbase; A0072 sister
Relative AIREbase; A0073 sister
//
ID R257X(25),#L323X373(36); standard; MUTATION; SAND,PHD
Accession A0083
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 9
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: frameshift deletion in the exon 8 leading to a
Description premature stop codon in the PHD domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:3; PKFL:1;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID #L323X373(37),R257X(26); standard; MUTATION; PHD,SAND
Accession A0084
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g.8473C>T, c.896C>T, p.R257X
Original code 10
Description Allele 1: deletion in the exon 8 leading to a premature
Description stop codon in the PHD domain
Description Allele 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:4; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID R257X(27),R257X(27); standard; MUTATION; SAND,SAND
Accession A0085
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code 11
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:4; PKFL:3;
Ethnic origin Caucasoid; North America
//
ID R257X(28a),P326L(1a); standard; MUTATION; SAND,PHD
Accession A0096
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9892C>T, c.1104C>T, p.P326L
Original code II1
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: point mutation in the exon 8 leading to an amino
Description acid change in the PHD domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11275943
RefAuthors Saugier-Veber, P., Drouot, N., Wolf, L. M., Kuhn, J. M.,
RefAuthors Frebourg, T., Lefebvre, H.
RefTitle Identification of a novel mutation in the autoimmune
RefTitle regulator (AIRE-1) gene in a french family with autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy.
RefLoc Eur J Endocrinol 144:347-351 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 9892
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 1104
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 326
Feature /change: P -> L
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism;
Sex XX
Ethnic origin France
Relative AIREbase; A0097 sister
Relative AIREbase; A0098 sister
//
ID R257X(28b),P326L(1b); standard; MUTATION; SAND,PHD
Accession A0097
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9892C>T, c.1104C>T, p.P326L
Original code II8
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: point mutation in the exon 8 leading to an amino
Description acid change in the PHD domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11275943
RefAuthors Saugier-Veber, P., Drouot, N., Wolf, L. M., Kuhn, J. M.,
RefAuthors Frebourg, T., Lefebvre, H.
RefTitle Identification of a novel mutation in the autoimmune
RefTitle regulator (AIRE-1) gene in a french family with autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy.
RefLoc Eur J Endocrinol 144:347-351 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 9892
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 1104
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 326
Feature /change: P -> L
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Pernicious
Symptoms anemia;
Sex XX
Ethnic origin France
Relative AIREbase; A0096 sister
Relative AIREbase; A0098 sister
//
ID R257X(28c),P326L(1c); standard; MUTATION; SAND,PHD
Accession A0098
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9892C>T, c.1104C>T, p.P326L
Original code II8
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: point mutation in the exon 8 leading to an amino
Description acid change in the PHD domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11275943
RefAuthors Saugier-Veber, P., Drouot, N., Wolf, L. M., Kuhn, J. M.,
RefAuthors Frebourg, T., Lefebvre, H.
RefTitle Identification of a novel mutation in the autoimmune
RefTitle regulator (AIRE-1) gene in a french family with autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy.
RefLoc Eur J Endocrinol 144:347-351 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 9892
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 1104
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 326
Feature /change: P -> L
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure;
Sex XX
Ethnic origin France
Relative AIREbase; A0096 sister
Relative AIREbase; A0097 sister
//
ID R257X(29),R257X(29); standard; MUTATION; SAND,SAND
Accession A0099
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code PK
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5p; PKFL:3p;
Haplotype Allele 2:
Haplotype D21S1912:4m; PKFL:2m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Chronic active hepatis;
Symptoms Presence of autoantibodies
Symptoms 17OH-; 21OH-; SCC-;
Ethnic origin Czech
//
ID R257X(30),R257X(30); standard; MUTATION; SAND,SAND
Accession A0100
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code KN
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:3p;
Haplotype Allele 2:
Haplotype D21S1912:4m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Alopecia; Keratoconjuctivitis;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH-; SCC-;
Ethnic origin Czech
//
ID R257X(32),#L323X373(40); standard; MUTATION; SAND,PHD
Accession A0102
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code HM
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: frameshift deletion in the exon 8 leading to a
Description premature stop codon in the PHD domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH-; SCC+;
Ethnic origin Hungary
//
ID R257X(33),?; standard; MUTATION; SAND
Accession A0103
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code SO
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: Not identified
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH+; SCC+;
Ethnic origin Hungary
//
ID R257X(36a),R257X(36a); standard; MUTATION; SAND,SAND
Accession A0107
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code CA1
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:3p;
Haplotype Allele 2:
Haplotype D21S1912:5m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH-; SCC+;
Ethnic origin Slovenia
Relative AIREbase; A0108 sibling
//
ID R257X(36b),R257X(36b); standard; MUTATION; SAND,SAND
Accession A0108
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code CA2
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:3p;
Haplotype Allele 2:
Haplotype D21S1912:5m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease;
Symptoms Presence of autoantibodies
Symptoms 17OH-; 21OH-; SCC+;
Ethnic origin Slovenia
Relative AIREbase; A0107 sibling
//
ID R257X(37),R257X(37); standard; MUTATION; SAND,SAND
Accession A0109
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code KM
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:5p;
Haplotype Allele 2:
Haplotype D21S1912:4m; PKFL:0m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH-; SCC-;
Ethnic origin Slovenia
//
ID R257X(38),R257X(38); standard; MUTATION; SAND,SAND
Accession A0110
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code NK
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5p; PKFL:3p;
Haplotype Allele 2:
Haplotype D21S1912:5m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Ectodermal dystrophy;
Symptoms Presence of autoantibodies
Symptoms 17OH-; 21OH-; SCC-;
Ethnic origin Slovenia
//
ID R257X(39),R257X(39); standard; MUTATION; SAND,SAND
Accession A0111
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code RP
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:2p;
Haplotype Allele 2:
Haplotype D21S1912:5m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH+; SCC+;
Ethnic origin Slovenia
//
ID R257X(40),R257X(40); standard; MUTATION; SAND,SAND
Accession A0112
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code CI
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:3p;
Haplotype Allele 2:
Haplotype D21S1912:5m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis;
Symptoms Ectodermal dystrophy;
Ethnic origin Croatia
//
ID R257X(41a),R257X(41a); standard; MUTATION; SAND,SAND
Accession A0113
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code PI1
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:3p;
Haplotype Allele 2:
Haplotype D21S1912:5m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Diabetes mellitus;
Symptoms Mucocutaneous candidiasis; Vitiligo; Alopecia;
Symptoms Malabsorption; Chronic active hepatitis; Ectodermal
Symptoms dystrophy; Keratoconjuctivitis;
Ethnic origin Croatia
Relative AIREbase; A0114 sibling
//
ID R257X(41b),R257X(41b); standard; MUTATION; SAND,SAND
Accession A0114
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code PI2
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:5p;
Haplotype Allele 2:
Haplotype D21S1912:5m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Vitiligo; Alopecia; Malabsorption; Ectodermal
Symptoms dystrophy; Keratoconjuctivitis;
Ethnic origin Croatia
Relative AIREbase; A0113 sibling
//
ID R257X(42),R257X(42); standard; MUTATION; SAND,SAND
Accession A0115
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code JD
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5p; PKFL:3p;
Haplotype Allele 2:
Haplotype D21S1912:5m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Mucocutaneous candidiasis; Vitiligo;
Symptoms Alopecia; Chronic active hepatitis; Ectodermal dystrophy;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH+; SCC+;
Ethnic origin Serbia
//
ID R257X(43),R257X(43); standard; MUTATION; SAND,SAND
Accession A0116
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code M4
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:4;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Chronic active hepatitis; Hypergonadotrophic
Symptoms hypogonadism;;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH+; SCC+;
Ethnic origin Russia
//
ID R257X(44),R257X(44); standard; MUTATION; SAND,SAND
Accession A0117
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code M13
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:2; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:6; PKFL:3;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Alopecia;
Ethnic origin Russia
//
ID R257X(45),R257X(45); standard; MUTATION; SAND,SAND
Accession A0118
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code M52
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:3p;
Haplotype Allele 2:
Haplotype D21S1912:4m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Alopecia;
Symptoms Presence of autoantibodies
Symptoms 17OH-; 21OH+; SCC+;
Ethnic origin Russia
//
ID R257X(46),R257X(46); standard; MUTATION; SAND,SAND
Accession A0119
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code AK
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:5p;
Haplotype Allele 2:
Haplotype D21S1912:3m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Gastritis;
Symptoms Mucocutaneous candidiasis; Malabsorption;
Ethnic origin Russia
//
ID R257X(47),R257X(47); standard; MUTATION; SAND,SAND
Accession A0120
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code PO
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:3p; PKFL:3p;
Haplotype Allele 2:
Haplotype D21S1912:4m; PKFL:4m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Mucocutaneous candidiasis; Malabsorption;
Ethnic origin Russia
//
ID R257X(48),R257X(48); standard; MUTATION; SAND,SAND
Accession A0121
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code SM
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4p; PKFL:3p;
Haplotype Allele 2:
Haplotype D21S1912:4m; PKFL:3m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Gastritis; Mucocutaneous candidiasis; Ectodermal
Symptoms dystrophy;
Ethnic origin Russia
//
ID R257X(50),?; standard; MUTATION; SAND
Accession A0126
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code Patient 1
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: Not identified
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11343230
RefAuthors Vogel, A., Liermann, H., Harms, A., Strassburg, C. P.,
RefAuthors Manns, M. P., Obermayer-Straub, P.
RefTitle Autoimmune regulator AIRE: evidence for genetic
RefTitle differences between autoimmune hepatitis and hepatitis as
RefTitle part of the autoimmune polyglandular syndrome type 1.
RefLoc Hepatology 33:1047-1052 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Autoimmune hepatitis type 1;
Sex XX
Age 64
Ethnic origin German
//
ID R257X(51),?; standard; MUTATION; SAND
Accession A0127
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code Patient 2
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: Not identified
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11343230
RefAuthors Vogel, A., Liermann, H., Harms, A., Strassburg, C. P.,
RefAuthors Manns, M. P., Obermayer-Straub, P.
RefTitle Autoimmune regulator AIRE: evidence for genetic
RefTitle differences between autoimmune hepatitis and hepatitis as
RefTitle part of the autoimmune polyglandular syndrome type 1.
RefLoc Hepatology 33:1047-1052 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Primary biliary cirrhosis;
Sex XX
Age 35
Ethnic origin German
//
ID R257X(52),?; standard; MUTATION; SAND
Accession A0128
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code Patient 3
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: Not identified
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11343230
RefAuthors Vogel, A., Liermann, H., Harms, A., Strassburg, C. P.,
RefAuthors Manns, M. P., Obermayer-Straub, P.
RefTitle Autoimmune regulator AIRE: evidence for genetic
RefTitle differences between autoimmune hepatitis and hepatitis as
RefTitle part of the autoimmune polyglandular syndrome type 1.
RefLoc Hepatology 33:1047-1052 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Diabetes mellitus; Autoimmune hepatitis type 2;
Symptoms Thyroiditis; Atrophic gastritis;
Sex XX
Age 35
Ethnic origin German
//
ID R257X(53),?; standard; MUTATION; SAND
Accession A0129
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code P1
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: Not identified
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11298085
RefAuthors Meyer, G., Donner, H., Herwig, J., Bohles, H., Usadel, K.
RefAuthors H., Badenhoop, K.
RefTitle Screening for an AIRE-1 mutation in patients with
RefTitle addison's disease, type 1 diabetes, graves' disease and
RefTitle hashimoto's thyroiditis as well as in APECED syndrome.
RefLoc Clin Endocrinol (Oxf) 54:335-338 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Diabetes mellitus; Mucocutaneous
Symptoms candidiasis;
Ethnic origin Caucasoid; German
//
ID R257X(54),?; standard; MUTATION; SAND
Accession A0130
Systematic name Allele 1: g.8473C>T, c.896C>T, p.R257X
Original code P2
Description Allele 1: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: Not identified
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11298085
RefAuthors Meyer, G., Donner, H., Herwig, J., Bohles, H., Usadel, K.
RefAuthors H., Badenhoop, K.
RefTitle Screening for an AIRE-1 mutation in patients with
RefTitle addison's disease, type 1 diabetes, graves' disease and
RefTitle hashimoto's thyroiditis as well as in APECED syndrome.
RefLoc Clin Endocrinol (Oxf) 54:335-338 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Alopecia; mosaic of Down's syndrome (46,
Symptoms XY/47, XY + 21);
Ethnic origin Caucasoid; German
//
ID R257X(55),R257X(55); standard; MUTATION; SAND,SAND
Accession A0132
Systematic name Allele 1 and 2: g.8473C>T, c.896C>T, p.R257X
Original code P6
Description Allele 1 and 2: point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11298085
RefAuthors Meyer, G., Donner, H., Herwig, J., Bohles, H., Usadel, K.
RefAuthors H., Badenhoop, K.
RefTitle Screening for an AIRE-1 mutation in patients with
RefTitle addison's disease, type 1 diabetes, graves' disease and
RefTitle hashimoto's thyroiditis as well as in APECED syndrome.
RefLoc Clin Endocrinol (Oxf) 54:335-338 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia; Pernicious anemia;
Symptoms Alopecia; Nail dystrophy; Malabsorption; Keratopathy;
Ethnic origin Caucasoid; German
//
ID R257X(59),R257X(59); standard; MUTATION; SAND,SAND
Accession A0161
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 10/H
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 28-Sep-2006 (Rel. 1, Created)
Date 28-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15886230
RefAuthors Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino,
RefAuthors T.
RefTitle Autoimmune regulator-1 messenger ribonucleic acid analysis
RefTitle in a novel intronic mutation and two additional novel AIRE
RefTitle gene mutations in a cohort of autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Slovenia
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Mucocutaneous candidiasis; Alopecia;
Symptoms Chronic active hepatitis;
//
ID Intron 5(1),R257X(60); standard; MUTATION; SAND,SAND
Accession A0162
Systematic name Allele 1: g.IVS5-7CTC>, c.653-7CTC>
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 11/I
Description Allele 1: A deletion in the intron 5 leading to aberrant
Description splicing
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 29-Sep-2006 (Rel. 1, Created)
Date 29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15886230
RefAuthors Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino,
RefAuthors T.
RefTitle Autoimmune regulator-1 messenger ribonucleic acid analysis
RefTitle in a novel intronic mutation and two additional novel AIRE
RefTitle gene mutations in a cohort of autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 8350..8352
Feature /change: -ctc
Feature /genomic_region: intron; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: insertion; frameshift
Feature /loc: IDRefSeq: C0003: 780
Feature /change: +gtcctgctgg gcgggtgagc caggaccagc cggcatctcc cag
Feature /inexloc: -7
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 218
Feature /change: G ->
Feature /change: GPAGRVSQDQ PASPRRLQEV HPGWRGVLHS QQVRRLRQWE
Feature /change: EQGPQQQWPE ASGSSQGSPG RCPRWRX
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Slovenia
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis;
//
ID R257X(61),R257X(61); standard; MUTATION; SAND,SAND
Accession A0165
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 1
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 29-Sep-2006 (Rel. 1, Created)
Date 29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Hepatitis;
//
ID R257X(62),R257X(62); standard; MUTATION; SAND,SAND
Accession A0166
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 2
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 29-Sep-2006 (Rel. 1, Created)
Date 29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Alopecia;
Symptoms Fahr-like intracranial calcifications;Keratitis;
//
ID R257X(63),R257X(63); standard; MUTATION; SAND,SAND
Accession A0167
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 3
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 29-Sep-2006 (Rel. 1, Created)
Date 29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Fahr-like
Symptoms intracranial calcifications;
//
ID R257X(64),R257X(64); standard; MUTATION; SAND,SAND
Accession A0168
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 4
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 29-Sep-2006 (Rel. 1, Created)
Date 29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Fahr-like
Symptoms intracranial calcifications;
//
ID R257X(65),R257X(65); standard; MUTATION; SAND,SAND
Accession A0169
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 5
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 29-Sep-2006 (Rel. 1, Created)
Date 29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Fahr-like intracranial calcifications;
//
ID R257X(66),R257X(66); standard; MUTATION; SAND,SAND
Accession A0170
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 6
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 29-Sep-2006 (Rel. 1, Created)
Date 29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Fahr-like
Symptoms intracranial calcifications; Conjunctivitis; Keratitis,
Symptoms Premature ovarian failure;
//
ID R257X(67a),R257X(67a); standard; MUTATION; SAND,SAND
Accession A0171
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 7
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 02-Oct-2006 (Rel. 1, Created)
Date 02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Poland
Family history Inherited
Relative AIREbase; A0172 sister
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms Keratitis;
//
ID R257X(67b),R257X(67b); standard; MUTATION; SAND,SAND
Accession A0172
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 02-Oct-2006 (Rel. 1, Created)
Date 02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Poland
Family history Inherited
Relative AIREbase; A0171 brother
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Fahr-like
Symptoms intracranial calcifications; Keratitis;
//
ID #L323X373(45),R257X(68); standard; MUTATION; PHD,SAND
Accession A0173
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 8
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the PHD domain
Date 02-Oct-2006 (Rel. 1, Created)
Date 02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Alopecia; Malabsorption; Chronic active
Symptoms hepatitis; Pancreatitis; Premature ovarian failure;
//
ID Intron 1(1),R257X(69); standard; MUTATION; HSR,SAND
Accession A0174
Systematic name Allele 1: g.IVS1+1G>C; g.IVS1+5G>, c.132+1G>C; c.132+5G>,
Systematic name r.132+1g>c; r.132+5g>
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 9
Description Allele 1: A point mutation and a deletion in the intron 1
Description leading to an amino acid change in the HSR domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the HSR domain
Date 02-Oct-2006 (Rel. 1, Created)
Date 02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0003: 4839
Feature /change: g -> c
Feature /genomic_region: intron; 1
Feature dna; 2
Feature /rnalink: 4
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 4843
Feature /change: -g
Feature /genomic_region: intron; 1
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: unknown
Feature /inexloc: +1
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 5
Feature /rnalink: 3
Feature /name: unknown
Feature /domain: HSR
Feature aa; 6
Feature /rnalink: 4
Feature /name: unknown
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Fahr-like
Symptoms intracranial calcifications
//
ID R257X(70),#C311X377(2); standard; MUTATION; SAND,PHD
Accession A0175
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9846delT, c.931delT, r.931delu, p.Cys311fsX67
Original code Patient 10
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the SAND domain
Date 02-Oct-2006 (Rel. 1, Created)
Date 02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9846
Feature /change: -t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1058
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 311
Feature /change: C ->
Feature /change: VTAALGPSTW PACPLRSGRS PVGPGGAPAA CRQQSRRCSP
Feature /change: GQRSPGPRSH PWRPRSPRGL GRRERRX
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Chronic active hepatitis; Fahr-like
Symptoms intracranial calcifications; Conjunctivitis; Premature
Symptoms puberty; Premature ovarian failure;
//
ID R257X(72),?; standard; MUTATION; SAND,
Accession A0179
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 13
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 02-Oct-2006 (Rel. 1, Created)
Date 02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Pernicious anemia; Chronic active hepatitis;
Symptoms Cataract;
//
ID R257X(73),?; standard; MUTATION; SAND,
Accession A0180
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Patient 14
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 02-Oct-2006 (Rel. 1, Created)
Date 02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0003: 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Deafness;
//
ID #L323X373(46a),R257X(74a); standard; MUTATION; PHD,SAND
Accession A0181
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code P1
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 11
Sex XY
Ethnic origin Caucasoid; Norway
Family history Inherited
Relative AIREbase; A0182brother
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms Keratopathy;
Symptoms Presence of autoantibodies
Symptoms AADC+;
//
ID #L323X373(46b),R257X(74b); standard; MUTATION; PHD,SAND
Accession A0182
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code P2
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 14
Sex XY
Ethnic origin Caucasoid; Norway
Family history Inherited
Relative AIREbase; A0181brother
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis;
Symptoms Presence of autoantibodies
Symptoms 21OH+;
//
ID R257X(75a),@H415X423(2a); standard; MUTATION; SAND,PRR
Accession A0183
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.11839_11840insA, c.1242_1243insA,
Systematic name r.1242_1243insa, p.His415fsX9
Original code P3
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift insertion mutation in the exon 10
Description leading to a premature stop codon in the SAND domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AB006684: 11840
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1370
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 415
Feature /change: H -> TPPTVCGSX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 16
Sex XX
Ethnic origin Caucasoid; Norway
Family history Inherited
Relative AIREbase; A0184
Relative AIREbase; A0185
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH-; SCC+;
//
ID R257X(75b),@H415X423(2b); standard; MUTATION; SAND,PRR
Accession A0184
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.11839_11840insA, c.1242_1243insA,
Systematic name r.1242_1243insa, p.His415fsX9
Original code P4
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift insertion mutation in the exon 10
Description leading to a premature stop codon in the SAND domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AB006684: 11840
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1370
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 415
Feature /change: H -> TPPTVCGSX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 20
Sex XX
Ethnic origin Caucasoid; Norway
Family history Inherited
Relative AIREbase; A0183
Relative AIREbase; A0185
Symptoms Clinical characteristics of patients
Symptoms Addison's disease;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH+;
//
ID R257X(75c),@H415X423(2c); standard; MUTATION; SAND,PRR
Accession A0185
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.11839_11840insA, c.1242_1243insA,
Systematic name r.1242_1243insa, p.His415fsX9
Original code P5
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift insertion mutation in the exon 10
Description leading to a premature stop codon in the SAND domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AB006684: 11840
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1370
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 415
Feature /change: H -> TPPTVCGSX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 25
Sex XX
Ethnic origin Caucasoid; Norway
Family history Inherited
Relative AIREbase; A0183
Relative AIREbase; A0184
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Gonadal failure; Mucocutaneous
Symptoms candidiasis; Vitiligo; Nail dystrophy;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH+; SCC+;
//
ID R257X(76),C446G(1); standard; MUTATION; SAND,PHD
Accession A0197
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.12546T>G, c.1336T>G, r.1336u>g, p.Cys446Gly
Original code P19
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A point mutation in the exon 11 leading to an
Description amino acid change in the SAND domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 12546
Feature /change: t -> g
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 1463
Feature /codon: tgt -> ggt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 446
Feature /change: C -> G
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 54
Sex XX
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms Hypothyroidism; Mucocutaneous candidiasis;
Symptoms Presence of autoantibodies
Symptoms 21OH+; GAD+;
//
ID R257X(77),R257X(77); standard; MUTATION; SAND,SAND
Accession A0198
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code P20
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 58
Sex XY
Ethnic origin Caucasoid; Norway
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Vitiligo; Alopecia;
Symptoms Presence of autoantibodies
Symptoms AADC+; 21OH+; SCC+; GAD+;
Comment Affected sister (deceased in 6 years) and brother (deceased
Comment in 12 years).
//
ID R257X(79),R257X(79); standard; MUTATION; SAND,SAND
Accession A0200
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code P24
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 30
Sex XX
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Gonadal failure; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia; Alopecia; Nail dystrophy;
Symptoms Presence of autoantibodies
Symptoms AADC+; TPH+; GAD+;
//
ID R257X(80),@L417X423(5); standard; MUTATION; SAND,PRR
Accession A0207
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.11846dupC, c.1249dupC, r.1249dupc, p.Leu417fsX7
Original code P31
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift duplication mutation in the exon 10
Description leading to a premature stop codon in the SAND domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: EMBL: AB006684: 11847
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1377
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 417
Feature /change: L -> PTVCGSX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 42
Sex XY
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Diabetes mellitus; Mucocutaneous
Symptoms candidiasis; Vitiligo; Alopecia; Nail dystrophy;
Symptoms Keratopathy;
Symptoms Presence of autoantibodies
Symptoms AADC+; TPH+; GAD+;
//
ID R257X(81),#L323X373(64); standard; MUTATION; SAND,PHD
Accession A0208
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P32
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the PHD domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 39
Sex XY
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Mucocutaneous candidiasis;
//
ID R257X(84),R257X(84); standard; MUTATION; SAND,SAND
Accession A0216
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Case1
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 15
Sex XY
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Diabetes mellitus; Alopecia; Malabsorption;
Symptoms Gastritis; Chronic candidiasis; Vitiligo;
Symptoms Autoimmune hepatitis; Keratopathy;
//
ID R257X(85),R257X(85); standard; MUTATION; SAND,SAND
Accession A0217
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Case3
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 32
Sex XY
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Vitiligo; Alopecia;
Symptoms Keratopathy; Malabsorption;
//
ID R257X(86),R257X(86); standard; MUTATION; SAND,SAND
Accession A0218
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Case4
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Vitiligo; Alopecia;
Symptoms Keratopathy; Malabsorption;
Comment Patient died at the age of 17.
//
ID R257X(87),R257X(87); standard; MUTATION; SAND,SAND
Accession A0219
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Case6
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 58
Sex XX
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Autoimmune Gastritis; Chronic candidiasis;
Symptoms Pernicious anemia; Premature ovarian failure;
Symptoms Vasculitis; Sjogren's syndrome; Cancer of oral mucosa;
//
ID R257X(88),R257X(88); standard; MUTATION; SAND,SAND
Accession A0220
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Case7
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 33
Sex XX
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Pernicious anemia; Alopecia;
Symptoms Autoimmune hepatitis; Keratopathy; Sjogren's syndrome;
Symptoms Grave's disease; Premature ovarian failure
//
ID R257X(89),R257X(89); standard; MUTATION; SAND,SAND
Accession A0221
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Case15
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 36
Sex XY
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Alopecia; Autoimmune hepatitis;
Symptoms Keratopathy;
//
ID R257X(90),R257X(90); standard; MUTATION; SAND,SAND
Accession A0222
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code Case17
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 8
Sex XY
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Hashimoto's thyroiditis;
//
ID R257X(93),#L323X373(67); standard; MUTATION; SAND,PHD
Accession A0225
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code Case14
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 24
Sex XX
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Autoimmune gastritis; Chronic candidiasis;
Symptoms Hashimoto's thyroiditis; Premature ovarian failure
Symptoms Pernicious anemia;
//
ID R257X(94),#L323X373(68); standard; MUTATION; SAND,PHD
Accession A0226
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code Case9
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 51
Sex XX
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Pernicious anemia; Asplenia;
Symptoms Celiac disease; Extrapyramidal syndrome;
Symptoms Premature ovarian failure; Autoimmune gastritis;
//
ID R257X(95),#L323X373(69); standard; MUTATION; SAND,PHD
Accession A0227
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code Case10
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Alopecia; Turner's syndrome;
Symptoms Gastric adenocarcinoma; Autoimmune Gastritis;
Comment Patient died at the age of 50.
//
ID R257X(96),#L323X373(70); standard; MUTATION; SAND,PHD
Accession A0228
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code Case11
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Autoimmune Gastritis; Chronic candidiasis;
Symptoms Pernicious anemia; Premature ovarian failure;
Symptoms Vitiligo; Alopecia; Cancer of oral mucosa;
Comment Patient died at the age of 36.
//
ID R257X(97),R257X(97); standard; MUTATION; SAND,SAND
Accession A0252
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code P.4
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19807739
RefAuthors Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani,
RefAuthors N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G.,
RefAuthors Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc Clin Genet:441-448 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis dystrophy (APECED)
Age 23
Sex XY
Parents Non consanguineous
Ethnic origin India
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Enamel hypoplasia; Candidiasis; Obstipation; Gallstones;
Symptoms Sicca syndrome; Chronic sinusitis; Nasal polyps; Pitted
Symptoms nails; Chronic otitis media; Hyposplenia;
Symptoms Presence of autoantibodies
Symptoms 21OH+; SCC+; TPO+; SCA+;
Comment Patient died of septicemia.
//
ID R257X(98a),R257X(98a); standard; MUTATION; SAND,SAND
Accession A0258
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code B1
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19863576
RefAuthors Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P.,
RefAuthors Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher,
RefAuthors M., Marodi, L.
RefTitle Novel sequence variation of AIRE and detection of
RefTitle interferon-omega antibodies in early infancy.
RefLoc Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 3/12
Sex XY
Ethnic origin Hungary
Relative AIREbase; A0259 sister
//
ID R257X(98b),R257X(98b); standard; MUTATION; SAND,SAND
Accession A0259
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code B2
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19863576
RefAuthors Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P.,
RefAuthors Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher,
RefAuthors M., Marodi, L.
RefTitle Novel sequence variation of AIRE and detection of
RefTitle interferon-omega antibodies in early infancy.
RefLoc Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 8/12
Sex XX
Ethnic origin Hungary
Relative AIREbase; A0258 brother
Symptoms Clinical characteristics of patients
Symptoms Mucocutaneous candidiasis; Adrenal failure; Autoimmune
Symptoms hepatitis; Celiac disease;
Comment Patient died of adrenal crisis at 10 years.
//
ID R257X(99),R257X(99); standard; MUTATION; SAND,SAND
Accession A0260
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code L1
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19863576
RefAuthors Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P.,
RefAuthors Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher,
RefAuthors M., Marodi, L.
RefTitle Novel sequence variation of AIRE and detection of
RefTitle interferon-omega antibodies in early infancy.
RefLoc Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 15
Sex XX
Ethnic origin Hungary
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenal failure; Delayed puberty; Short
Symptoms stature;
//
ID R257X(101),#C322X373(1); standard; MUTATION; SAND,PHD
Accession A0262
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9880_9892delGCCTGTCCCCTCC,
Systematic name c.965_977delGCCTGTCCCCTCC, r.965_977delgccuguccccucc,
Systematic name p.Leu323fsX51
Original code H1
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19863576
RefAuthors Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P.,
RefAuthors Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher,
RefAuthors M., Marodi, L.
RefTitle Novel sequence variation of AIRE and detection of
RefTitle interferon-omega antibodies in early infancy.
RefLoc Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9880..9892
Feature /change: -gcctgtcccc tcc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1092..1104
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 322..326
Feature /change: CLSPP ->
Feature /change: CSGRSPVGPG GAPAACRQQS RRCSPGQRSP GPRSHPWRPR
Feature /change: SPRGLGRRER RX
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 1
Sex XY
Ethnic origin Hungary
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Recurrent respiratory tract
Symptoms infections;
//
ID R257X(102a),#H448X479(1a); standard; MUTATION; SAND,PHD
Accession A0263
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.12554delC, c.1344delC, r.1344delc,
Systematic name p.Cys449fsX31
Original code V1
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift deletion mutation in the exon 11
Description leading to a premature stop codon in the PHD domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19863576
RefAuthors Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P.,
RefAuthors Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher,
RefAuthors M., Marodi, L.
RefTitle Novel sequence variation of AIRE and detection of
RefTitle interferon-omega antibodies in early infancy.
RefLoc Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 12554
Feature /change: -c
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1471
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 448
Feature /change: H -> HAPLPSTGAA TSQPAPPGPG RACAADPAQE TX
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 6.5
Sex XY
Ethnic origin Hungary
Relative AIREbase; A0264 brother
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Adrenal
Symptoms failure; Autoimmune thyroiditis; Recurrent respiratory
Symptoms tract infection;;
//
ID R257X(102b),#H448X479(1b); standard; MUTATION; SAND,PHD
Accession A0264
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.12554delC, c.1344delC, r.1344delc,
Systematic name p.Cys449fsX31
Original code V2
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A frame shift deletion mutation in the exon 11
Description leading to a premature stop codon in the PHD domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19863576
RefAuthors Toth, B., Wolff, A. S., Halasz, Z., Tar, A., Szuts, P.,
RefAuthors Ilyes, I., Erdos, M., Szegedi, G., Husebye, E. S., Zeher,
RefAuthors M., Marodi, L.
RefTitle Novel sequence variation of AIRE and detection of
RefTitle interferon-omega antibodies in early infancy.
RefLoc Clin Endocrinol (Oxf):641-647 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 12554
Feature /change: -c
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1471
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 448
Feature /change: H -> HAPLPSTGAA TSQPAPPGPG RACAADPAQE TX
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 11
Sex XY
Ethnic origin Hungary
Relative AIREbase; A0263 brother
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism;
//
ID R257X(103),R257X(103); standard; MUTATION; SAND,SAND
Accession A0269
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 7/G
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18682433
RefAuthors Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J.,
RefAuthors Claasen-van der Grinten, H. L., Bratanic, N., Hovnik,
RefAuthors T., Battelino, T.
RefTitle Detection of a complete autoimmune regulator gene deletion
RefTitle and two additional novel mutations in a cohort of patients
RefTitle with atypical phenotypic variants of autoimmune
RefTitle polyglandular syndrome type 1.
RefLoc Eur J Endocrinol:633-639 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 1
Sex XX
Ethnic origin Serbian
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Vitiligo;
//
ID R257X(104),R257X(104); standard; MUTATION; SAND,SAND
Accession A0270
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 8/H
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18682433
RefAuthors Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J.,
RefAuthors Claasen-van der Grinten, H. L., Bratanic, N., Hovnik,
RefAuthors T., Battelino, T.
RefTitle Detection of a complete autoimmune regulator gene deletion
RefTitle and two additional novel mutations in a cohort of patients
RefTitle with atypical phenotypic variants of autoimmune
RefTitle polyglandular syndrome type 1.
RefLoc Eur J Endocrinol:633-639 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 5
Sex XX
Ethnic origin Serbian
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Pernicious anemia; Chronic active hepatitis;
//
ID R257X(105),R257X(105); standard; MUTATION; SAND,SAND
Accession A0271
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 9/I
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18682433
RefAuthors Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J.,
RefAuthors Claasen-van der Grinten, H. L., Bratanic, N., Hovnik,
RefAuthors T., Battelino, T.
RefTitle Detection of a complete autoimmune regulator gene deletion
RefTitle and two additional novel mutations in a cohort of patients
RefTitle with atypical phenotypic variants of autoimmune
RefTitle polyglandular syndrome type 1.
RefLoc Eur J Endocrinol:633-639 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 6
Sex XY
Ethnic origin Serbian
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Malabsorption;
//
ID R257X(106a),R257X(106a); standard; MUTATION; SAND,SAND
Accession A0272
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 10/J
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18682433
RefAuthors Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J.,
RefAuthors Claasen-van der Grinten, H. L., Bratanic, N., Hovnik,
RefAuthors T., Battelino, T.
RefTitle Detection of a complete autoimmune regulator gene deletion
RefTitle and two additional novel mutations in a cohort of patients
RefTitle with atypical phenotypic variants of autoimmune
RefTitle polyglandular syndrome type 1.
RefLoc Eur J Endocrinol:633-639 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 9
Sex XX
Ethnic origin Serbian
Relative AIREbase; A0273
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms Mucocutaneous candidiasis; Alopecia;
//
ID R257X(106b),R257X(106b); standard; MUTATION; SAND,SAND
Accession A0273
Systematic name Allele 1 and 2: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Original code 11/J
Description Allele 1 and 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18682433
RefAuthors Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J.,
RefAuthors Claasen-van der Grinten, H. L., Bratanic, N., Hovnik,
RefAuthors T., Battelino, T.
RefTitle Detection of a complete autoimmune regulator gene deletion
RefTitle and two additional novel mutations in a cohort of patients
RefTitle with atypical phenotypic variants of autoimmune
RefTitle polyglandular syndrome type 1.
RefLoc Eur J Endocrinol:633-639 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
Diagnosis Autoimmune polyglandular syndrome type 1
Age 11
Sex XY
Ethnic origin Serbian
Relative AIREbase; A0272
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Pernicious anemia; Alopecia; Malabsorption;
//
ID R257X(107),E298K(1); standard; MUTATION; SAND,
Accession A0274
Systematic name Allele 1: g.8473C>T, c.769C>T, r.769c>u, p.Arg257X
Systematic name Allele 2: g.9807G>A, c.892G>A, r.892g>a, p.Glu298Lys
Original code 5/E
Description Allele 1: A point mutation in the exon 6 leading to a
Description premature stop codon in the SAND domain
Description Allele 2: A point mutation in the exon 8 leading to an
Description amino acid change
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18682433
RefAuthors Podkrajsek, K. T., MilenkoviA�, T., Odink, R. J.,
RefAuthors Claasen-van der Grinten, H. L., Bratanic, N., Hovnik,
RefAuthors T., Battelino, T.
RefTitle Detection of a complete autoimmune regulator gene deletion
RefTitle and two additional novel mutations in a cohort of patients
RefTitle with atypical phenotypic variants of autoimmune
RefTitle polyglandular syndrome type 1.
RefLoc Eur J Endocrinol:633-639 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8473
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 896
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 257
Feature /change: R -> X
Feature /domain: SAND
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 9807
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 1019
Feature /codon: gag -> aag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 298
Feature /change: E -> K
Diagnosis Autoimmune polyglandular syndrome type 1
Age 7.5
Sex XX
Ethnic origin Serbian
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms Mucocutaneous candidiasis; Pernicious anemia; Chronic
Symptoms otitis media; Dyspnoea; Rheumatoid arthritis;;
//
ID @L283X288(1),@L283X288(1); standard; MUTATION;
Accession A0248
Systematic name Allele 1 and 2: g.8736dupC, c.847dupC, r.847dupc,
Systematic name p.Leu283fsX6
Original code 6.II-6
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 7 leading to a premature stop codon
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19758376
RefAuthors Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A.,
RefAuthors Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S.,
RefAuthors Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel,
RefAuthors F., Zaidi, S. H.
RefTitle Novel and recurrent mutations in the AIRE gene of
RefTitle autoimmune polyendocrinopathy syndrome type 1 (APS1)
RefTitle patients.
RefLoc Clin Genet:431-440 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AB006684: 8737
Feature /change: +c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 975
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 283
Feature /change: L -> PGPPQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: EMBL: AB006684: 8737
Feature /change: +c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 975
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 283
Feature /change: L -> PGPPQX
Diagnosis Autoimmune polyglandular syndrome type 1
Age 11
Sex XY
Ethnic origin Saudi Arab
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis;
//
ID Q293Q(1a),Q293Q(1a); standard; MUTATION;
Accession A0204
Systematic name Allele 1: g.8768G>A, c.879G>A, r.879g>a, p.Gln293Gln
Systematic name Allele 2: g.8768G>A, c.879G>A, r.879g>a, p.Gln293Gln
Original code P28
Description Allele 1: A point mutation in the exon 7 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 7 leading to an
Description amino acid change
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8768
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 1006
Feature /codon: cag -> caa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 293
Feature /change: Q -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8768
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 1006
Feature /codon: cag -> caa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 293
Feature /change: Q -> Q
Diagnosis Autoimmune polyglandular syndrome type 1
Age 32
Sex XX
Ethnic origin Caucasoid; Norway
Family history Inherited
Relative AIREbase; A0205brother
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Mucocutaneous candidiasis;
Symptoms Presence of autoantibodies
Symptoms 21OH+; TPH+;
//
ID Q293Q(2b),Q293Q(2b); standard; MUTATION;
Accession A0205
Systematic name Allele 1: g.8768G>A, c.879G>A, r.879g>a, p.Gln293Gln
Systematic name Allele 2: g.8768G>A, c.879G>A, r.879g>a, p.Gln293Gln
Original code P29
Description Allele 1: A point mutation in the exon 7 leading to an
Description amino acid change
Description Allele 2: A point mutation in the exon 7 leading to an
Description amino acid change
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 8768
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 1006
Feature /codon: cag -> caa; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 293
Feature /change: Q -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 8768
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: EMBL: AB006682; GI:2696614; : 1006
Feature /codon: cag -> caa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 293
Feature /change: Q -> Q
Diagnosis Autoimmune polyglandular syndrome type 1
Age 47
Sex XY
Ethnic origin Caucasoid; Norway
Family history Inherited
Relative AIREbase; A0204sister
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Diabetes mellitus; Vitiligo;
Symptoms Presence of autoantibodies
Symptoms AADC+; TPH+; GAD+;
//
ID V301M(1),?; standard; MUTATION; PHD
Accession A0095
Systematic name Allele 1: g.9816G>A, c.1028G>A, p.V301M
Original code Patient 2
Description Allele 1: point mutation in the exon 8 leading to an amino
Description acid change in the PHD domain
Description Allele 2: Not identified
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10634424
RefAuthors Soderbergh, A., Rorsman, F., Halonen, M., Ekwall, O.,
RefAuthors Bjorses, P., Kampe, O., Husebye, E. S.
RefTitle Autoantibodies against aromatic L-amino acid decarboxylase
RefTitle identifies a subgroup of patients with addison's disease.
RefLoc J Clin Endocrinol Metab 85:460-463 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 9816
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 1028
Feature /codon: gtg -> atg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 301
Feature /change: V -> M
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Adrenocortical failure; Gonadal failure; Autoimmune
Symptoms thyroiditis;
Symptoms Presence of autoantibodies
Symptoms AADC+; 21OH+; SCC-;
Sex XX
Ethnic origin Norway
//
ID C302X(1),C302X(1); standard; MUTATION; PHD,PHD
Accession A0251
Systematic name Allele 1 and 2: g.9821T>A, c.906T>A, r.906u>a, p.Cys302X
Original code P.3
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the PHD domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19807739
RefAuthors Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani,
RefAuthors N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G.,
RefAuthors Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc Clin Genet:441-448 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: EMBL: AB006684: 9821
Feature /change: t -> a
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 1033
Feature /codon: tgt -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 302
Feature /change: C -> X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: EMBL: AB006684: 9821
Feature /change: t -> a
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: EMBL: AB006682; GI:2696614; : 1033
Feature /codon: tgt -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 302
Feature /change: C -> X
Feature /domain: PHD
Diagnosis Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis dystrophy (APECED)
Age 13
Sex XX
Parents Non consanguineous
Ethnic origin India
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Enamel hypoplasia; Candidiasis;
Symptoms Obstipation; Chronic diarrhea; Pitted nails; Facial
Symptoms dysmorphism;
//
ID #C302X311(1),#L323X373(71); standard; MUTATION; PHD,PHD
Accession A0229
Systematic name Allele 1: g.9820_9821delGT, c.905_906delGT, r.905_906delgu,
Systematic name p.Cys302fsX10
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code Case5
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9820..9821
Feature /change: -gt
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1032..1033
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 302
Feature /change: C -> SGRRGAHLLX
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 44
Sex XY
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis;
//
ID R303P(1),?; standard; MUTATION; PHD,
Accession A0178
Systematic name Allele 1: g.9823G>C, c.908G>C, r.908g>c, p.Arg303Pro
Original code Patient 12
Description Allele 1: A point mutation in the exon 8 leading to
Description an amino acid change in the PHD domain
Date 02-Oct-2006 (Rel. 1, Created)
Date 02-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16965330
RefAuthors Stolarski, B., Pronicka, E., Korniszewski, L., Pollak, A.,
RefAuthors Kostrzewa, G., Rowinska, E., Wlodarski, P., Skorka, A.,
RefAuthors Gremida, M., Krajewski, P., Ploski, R.
RefTitle Molecular background of polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy syndrome in a polish population:
RefTitle novel AIRE mutations and an estimate of disease
RefTitle prevalence.
RefLoc Clin Genet:348-354 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 9823
Feature /change: g -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 1035
Feature /codon: cgg -> ccg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 303
Feature /change: R -> P
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Poland
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Chronic active hepatitis; Fahr-like
Symptoms intracranial calcifications; Growth hormone deficiency;
Symptoms Premature ovarian failure;
//
ID #C311X377(1),#C311X377(1); standard; MUTATION; PHD,PHD
Accession A0149
Systematic name Allele 1 and 2: g.9846delT, c.931delT, r.931delu,
Systematic name p.Cys311fsX67
Original code 10/G
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Date 22-Sep-2006 (Rel. 1, Created)
Date 22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11836330
RefAuthors Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A.,
RefAuthors Rosatelli, M. C.
RefTitle Delineation of the molecular defects in the AIRE gene in
RefTitle autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy patients from southern italy.
RefLoc J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9846
Feature /change: -t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1058
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 311
Feature /change: C ->
Feature /change: VTAALGPSTW PACPLRSGRS PVGPGGAPAA CRQQSRRCSP
Feature /change: GQRSPGPRSH PWRPRSPRGL GRRERRX
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9846
Feature /change: -t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1058
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 311
Feature /change: C ->
Feature /change: VTAALGPSTW PACPLRSGRS PVGPGGAPAA CRQQSRRCSP
Feature /change: GQRSPGPRSH PWRPRSPRGL GRRERRX
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Enamel
Symptoms hypoplasia; Alopecia; Malabsorption; Nephrocalcinosis;
//
ID #L323X373(2),#L323X373(2); standard; MUTATION; PHD,PHD
Accession A0015
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code NITD
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Ethnic origin Italy
//
ID #L323X373(4),#L323X373(4); standard; MUTATION; PHD,PHD
Accession A0018
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code NIT-I
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Ethnic origin Italy
//
ID #L323X373(5),#L323X373(5); standard; MUTATION; PHD,PHD
Accession A0019
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code CS
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Ethnic origin Britain
//
ID #L323X373(9),#L323X373(9); standard; MUTATION; PHD,PHD
Accession A0036
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamA,II1
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:5; D21S1890:1; D21S1912:4; PKFL:3; D21S171:3;
Haplotype D21S1903:3;
Haplotype Allele 2:
Haplotype D21S49:3; D21S1890:3; D21S1912:1; PKFL:2; D21S171:3;
Haplotype D21S1903:3;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Mucocutaneous
Symptoms candidiasis;
Sex XY
Ethnic origin Britain
//
ID #P422X479(1a),#L323X373(10a); standard; MUTATION; PRR,PHD
Accession A0037
Systematic name Allele 1: g.11861delC, c.1391delC, p.P422fsX479
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamB,II1
Description Allele 1: deletion in the exon 10 leading to stop codon in
Description the PRR domain
Description Allele 2: frameshift deletion in the exon 8 leading to
Description stop codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 2839266
RefAuthors Kendall-Taylor, P., Lambert, A., Mitchell, R., Robertson,
RefAuthors W. R.
RefTitle Antibody that blocks stimulation of cortisol secretion by
RefTitle adrenocorticotrophic hormone in Addison's disease.
RefLoc Br Med J (Clin Res Ed) 296:1489-1491 (1988)
RefNumber [2]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 11861
Feature /change: -c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1391
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 422
Feature /change: P
Feature /change: -> LRVSRTWLLV RVAGCAEMVR TCCGVLTAPL PSTGAATSQP
Feature /change: APPGPGRACA ADPAQETX
Feature /domain: PRR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:4; D21S1890:5; D21S1912:3; PKFL:3; D21S171:3;
Haplotype D21S1903:9;
Haplotype Allele 2:
Haplotype D21S49:3; D21S1890:6; D21S1912:4; PKFL:3; D21S171:3;
Haplotype D21S1903:6;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Mucocutaneous
Symptoms candidiasis; Ankylosing spondylitis;
Sex XX
Ethnic origin Britain
Relative AIREbase; A0038 sister
//
ID #P422X479(1b),#L323X373(10b); standard; MUTATION; PRR,PHD
Accession A0038
Systematic name Allele 1: g.11861delC, c.1391delC, p.P422fsX479
Systematic name Allele 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamB,II2
Description Allele 1: deletion in the exon 10 leading to stop codon in
Description the PRR domain
Description Allele 2: frameshift deletion in the exon 8 leading to
Description stop codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 11861
Feature /change: -c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1391
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 422
Feature /change: P
Feature /change: -> LRVSRTWLLV RVAGCAEMVR TCCGVLTAPL PSTGAATSQP
Feature /change: APPGPGRACA ADPAQETX
Feature /domain: PRR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:4; D21S1890:5; D21S1912:3; PKFL:3; D21S171:3;
Haplotype D21S1903:9;
Haplotype Allele 2:
Haplotype D21S49:3; D21S1890:6; D21S1912:4; PKFL:3; D21S171:3;
Haplotype D21S1903:6;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Gonadal
Symptoms failure; Mucocutaneous candidiasis; Pernicious anemia;
Symptoms Malabsorption; Autoimmune hepatitis; beta-hemolytic
Symptoms streptococcal septicemia;
Sex XX
Ethnic origin Britain
Relative AIREbase; A0037 sister
//
ID #L323X373(11a),#L323X373(11a); standard; MUTATION; PHD,PHD
Accession A0039
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamC,II1
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:3; D21S1890:1; D21S1912:5; PKFL:3; D21S171:3;
Haplotype D21S1903:7;
Haplotype Allele 2:
Haplotype D21S49:4; D21S1890:2; D21S1912:2; PKFL:3; D21S171:3;
Haplotype D21S1903:9;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Mucocutaneous
Symptoms candidiasis; Postanesthetic adrenal crisis with
Symptoms respiratory arrest;
Sex XX
Ethnic origin Britain
Relative AIREbase; A0040 sister
Relative AIREbase; A0041 sister
//
ID #L323X373(11b),#L323X373(11b); standard; MUTATION; PHD,PHD
Accession A0040
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamC,II2
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:3; D21S1890:1; D21S1912:5; PKFL:3; D21S171:3;
Haplotype D21S1903:7;
Haplotype Allele 2:
Haplotype D21S49:4; D21S1890:2; D21S1912:2; PKFL:3; D21S171:3;
Haplotype D21S1903:9;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Mucocutaneous
Symptoms candidiasis;
Sex XX
Ethnic origin Britain
Relative AIREbase; A0039 sister
Relative AIREbase; A0041 sister
//
ID #L323X373(11c),#L323X373(11c); standard; MUTATION; PHD,PHD
Accession A0041
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamC,II3
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:3; D21S1890:1; D21S1912:5; PKFL:3; D21S171:3;
Haplotype D21S1903:7;
Haplotype Allele 2:
Haplotype D21S49:4; D21S1890:2; D21S1912:2; PKFL:3; D21S171:3;
Haplotype D21S1903:9;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis;
Sex XX
Ethnic origin Britain
Relative AIREbase; A0039 sister
Relative AIREbase; A0040 sister
//
ID #L323X373(13),#L323X373(13); standard; MUTATION; PHD,PHD
Accession A0045
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamF,II1
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:1; D21S1890:3; D21S1912:4; PKFL:3; D21S171:3;
Haplotype D21S1903:8;
Haplotype Allele 2:
Haplotype D21S49:2; D21S1890:1; D21S1912:6; PKFL:3; D21S171:3;
Haplotype D21S1903:7;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure;
Symptoms Hypothyroidism; Diabetes mellitus; Mucocutaneous
Symptoms candidiasis; Alopecia; Keratopathy;
Sex XY
Ethnic origin Britain
//
ID #L323X373(14),#L323X373(14); standard; MUTATION; PHD,PHD
Accession A0047
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamH,II2
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:1; D21S1890:4; D21S1912:4; PKFL:3; D21S171:3;
Haplotype D21S1903:7;
Haplotype Allele 2:
Haplotype D21S49:3; D21S1890:4; D21S1912:4; PKFL:3; D21S171:3;
Haplotype D21S1903:4;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Gonadal
Symptoms failure; Mucocutaneous candidiasis;
Sex XX
Ethnic origin Britain
//
ID #L323X373(15),#L323X373(15); standard; MUTATION; PHD,PHD
Accession A0048
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamI,II1
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S49:2; D21S1890:4; D21S1912:4; PKFL:3; D21S171:3;
Haplotype D21S1903:7;
Haplotype Allele 2:
Haplotype D21S49:2; D21S1890:1; D21S1912:2; PKFL:3; D21S171:3;
Haplotype D21S1903:8;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Gonadal
Symptoms failure; Diabetes mellitus; Mucocutaneous candidiasis;
Symptoms Pernicious anemia;
Sex XY
Ethnic origin Britain
//
ID #L323X373(16a),#L323X373(16a); standard; MUTATION; PHD,PHD
Accession A0049
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamJ,II1
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Diabetes
Symptoms mellitus; Mucocutaneous candidiasis; Alopecia;
Symptoms Malabsorption;
Sex XY
Ethnic origin Britain
Relative AIREbase; A0050 brother
//
ID #L323X373(16b),#L323X373(16b); standard; MUTATION; PHD,PHD
Accession A0050
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamJ,II2
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Adrenocortical failure; Mucocutaneous candidiasis;
Symptoms Malabsorption;
Sex XY
Ethnic origin Britain
Relative AIREbase; A0049 brother
//
ID #L323X373(17a),#L323X373(17a); standard; MUTATION; PHD,PHD
Accession A0051
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamK,II3
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Mucocutaneous
Symptoms candidiasis; Systemic varicella infection;
Sex XY
Ethnic origin Britain
Relative AIREbase; A0052 brother
//
ID #L323X373(17b),#L323X373(17b); standard; MUTATION; PHD,PHD
Accession A0052
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamK,II6
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Gonadal
Symptoms failure; Mucocutaneous candidiasis; Pernicious anemia;
Symptoms Alopecia; Malabsorption;
Sex XY
Ethnic origin Britain
Relative AIREbase; A0051 brother
//
ID #L323X373(18),?; standard; MUTATION; PHD
Accession A0053
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code FamL,II5
Description Allele 1: deletion in the exon 8 leading to stop codon in
Description the PHD domain
Description Allele 2: Not identified
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9837820
RefAuthors Pearce, S. H., Cheetham, T., Imrie, H., Vaidya, B.,
RefAuthors Barnes, N. D., Bilous, R. W., Carr, D., Meeran, K., Shaw,
RefAuthors N. J., Smith, C. S., Toft, A. D., Williams, G.,
RefAuthors Kendall-Taylor, P.
RefTitle A common and recurrent 13-bp deletion in the autoimmune
RefTitle regulator gene in British kindreds with autoimmune
RefTitle polyendocrinopathy type 1.
RefLoc Am J Hum Genet 63:1675-1684 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Adrenocortical failure; Gonadal
Symptoms failure; Diabetes mellitus; Mucocutaneous candidiasis;
Symptoms Pernicious anemia; Alopecia; Malabsorption; Keratopathy;
Symptoms Intracerebral hemorrhage;
Sex XX
Ethnic origin Britain
//
ID #L323X373(19),#L323X373(19); standard; MUTATION; PHD,PHD
Accession A0054
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 101A
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5; PKFL:5; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5; D21S171:7;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Vitiligo; Alopecia;
Sex XY
Ethnic origin Caucasoid; USA
//
ID #L323X373(20a),#L323X373(20a); standard; MUTATION; PHD,PHD
Accession A0055
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 105A
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:6; PKFL:5; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:8; PKFL:7; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Chronic active hepatitis; Hypogonadism;
Sex XY
Ethnic origin Caucasoid; USA
Relative AIREbase; A0056 sister
Relative AIREbase; A0057 sister
//
ID #L323X373(20b),#L323X373(20b); standard; MUTATION; PHD,PHD
Accession A0056
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 105B
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:6; PKFL:5; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:8; PKFL:7; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis;
Sex XX
Ethnic origin Caucasoid; USA
Relative AIREbase; A0055 brother
Relative AIREbase; A0057 sister
//
ID #L323X373(20c),#L323X373(20c); standard; MUTATION; PHD,PHD
Accession A0057
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 105C
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:6; PKFL:5; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:8; PKFL:7; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Chronic active hepatitis;
Sex XX
Ethnic origin Caucasoid; USA
Relative AIREbase; A0055 brother
Relative AIREbase; A0056 sister
//
ID #L323X373(21),#L323X373(21); standard; MUTATION; PHD,PHD
Accession A0058
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 106A
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5; PKFL:5; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Alopecia;
Symptoms Hashimoto's thyroiditis;
Sex XY
Ethnic origin Caucasoid; USA
//
ID #L323X373(22),#L323X373(22); standard; MUTATION; PHD,PHD
Accession A0059
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 114A
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:5; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:7; PKFL:5; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Alopecia; Chronic active hepatitis;
Sex XY
Ethnic origin Caucasoid; USA
//
ID #L323X373(23),#L323X373(23); standard; MUTATION; PHD,PHD
Accession A0060
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 115A
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:6; PKFL:5; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:6; PKFL:5; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms Malabsorption;
Sex XX
Ethnic origin Caucasoid; USA
//
ID #L323X373(24),#L323X373(24); standard; MUTATION; PHD,PHD
Accession A0061
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 117A
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:5; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:1; PKFL:5; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis;
Sex XX
Ethnic origin Caucasoid; USA
//
ID #L323X373(25),#L323X373(25); standard; MUTATION; PHD,PHD
Accession A0062
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 119A
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5; PKFL:5; D21S171:5;
Haplotype Allele 2:
Haplotype D21S1912:4; PKFL:7; D21S171:7;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis;
Sex XX
Ethnic origin Caucasoid; USA
//
ID #L323X373(28),#L323X373(28); standard; MUTATION; PHD,PHD
Accession A0075
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 1
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID #L323X373(29),#L323X373(29); standard; MUTATION; PHD,PHD
Accession A0076
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 2
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:2; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID #L323X373(30),#L323X373(30); standard; MUTATION; PHD,PHD
Accession A0077
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 3
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:10; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID #L323X373(31),#L323X373(31); standard; MUTATION; PHD,PHD
Accession A0078
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 4
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:10; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:10; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID #L323X373(32),#L323X373(32); standard; MUTATION; PHD,PHD
Accession A0079
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 5
Description Allele 1 and 2: deletion in the exon 8 leading to stop
Description codon in the PHD domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:6; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID #L323X373(33),?; standard; MUTATION; PHD
Accession A0080
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 6
Description Allele 1: deletion in the exon 8 leading to stop codon in
Description the PHD domain
Description Allele 2: Not identified
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:7; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:6; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID #L323X373(34),@A432X503(1); standard; MUTATION; PHD,
Accession A0081
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Systematic name Allele 2: g., c., p.A432fsX503
Original code 7
Description Allele 1: deletion in the exon 8 leading to a premature
Description stop codon in the PHD domain
Description Allele 2: complex mutation in the exon 11 leading to a
Description premature stop codon
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: D0003: 12506
Feature /change: g -> ac
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1423
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 432
Feature /change: A
Feature /change: -> APLRGVRRWY GRAAVYSLRR CLPLALPLPS RHLPARDGPA
Feature /change: LQILLRRRDP SPCGGGAGPQ PRPPGPWACQ GX
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:3; PKFL:4;
Haplotype Allele 2:
Haplotype D21S1912:6; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID #L323X373(38),#L323X373(38); standard; MUTATION; PHD,PHD
Accession A0090
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code 16
Description Allele 1 and 2: deletion in the exon 8 leading to a
Description premature stop codon in the PHD domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:6; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Ethnic origin Asian
//
ID #L323X373(41),?; standard; MUTATION; PHD
Accession A0105
Systematic name Allele 1: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code HE
Description Allele 1: deletion in the exon 8 leading to a premature
Description stop codon in the PHD domain
Description Allele 2: Not identified
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:2; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:6; PKFL:8;
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Hypothyroidism; Gastritis;
Symptoms Mucocutaneous candidiasis; Alopecia; Ectodermal
Symptoms dystrophy;
Symptoms Presence of autoantibodies
Symptoms 17OH-; 21OH+; SCC-;
Ethnic origin Hungary
//
ID #L323X373(42),#L323X373(42); standard; MUTATION; PHD,PHD
Accession A0124
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code DE
Description Allele 1 and 2: deletion in the exon 8 leading to a
Description premature stop codon in the PHD domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5p; PKFL:5p;
Haplotype Allele 2:
Haplotype D21S1912:6m; PKFL:5m;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Hypothyroidism;
Symptoms Mucocutaneous candidiasis; Alopecia; Keratoconjuctivitis;
Ethnic origin Azerbaijan
//
ID #L323X373(43),#L323X373(43); standard; MUTATION; PHD,PHD
Accession A0131
Systematic name Allele 1 and 2: g.9882_9894del, c.1094_1106del, p.L323fsX373
Original code P4
Description Allele 1 and 2: deletion in the exon 8 leading to a
Description premature stop codon in the PHD domain
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11298085
RefAuthors Meyer, G., Donner, H., Herwig, J., Bohles, H., Usadel, K.
RefAuthors H., Badenhoop, K.
RefTitle Screening for an AIRE-1 mutation in patients with
RefTitle addison's disease, type 1 diabetes, graves' disease and
RefTitle hashimoto's thyroiditis as well as in APECED syndrome.
RefLoc Clin Endocrinol (Oxf) 54:335-338 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL
Feature /change: -> SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease;
Ethnic origin Caucasoid; German
//
ID #L323X373(44),#L323X373(44); standard; MUTATION; PHD,PHD
Accession A0133
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code 30-year old man
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Date 20-Sep-2006 (Rel. 1, Created)
Date 20-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11916620
RefAuthors Boe, A. S., Knappskog, P. M., Myhre, A. G., Sorheim, J.
RefAuthors I., Husebye, E. S.
RefTitle Mutational analysis of the autoimmune regulator (AIRE)
RefTitle gene in sporadic autoimmune addison's disease can reveal
RefTitle patients with unidentified autoimmune polyendocrine
RefTitle syndrome type I.
RefLoc Eur J Endocrinol:519-522 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Addison's Disease
Sex XY
Ethnic origin Caucasoid; Norway
Symptoms Clinical characteristics of patients
Symptoms Addison's disease;
Symptoms Presence of autoantibodies
Symptoms SCC+; GAD+;
//
ID #L323X373(47),#L323X373(47); standard; MUTATION; PHD,PHD
Accession A0186
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P6
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 16
Sex XY
Ethnic origin Caucasoid; Norway
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia; Malabsorption;
Symptoms Presence of autoantibodies
Symptoms 21OH+; TH+;
//
ID #L323X373(48a),#L323X373(48a); standard; MUTATION; PHD,PHD
Accession A0187
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P7
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 19
Sex XY
Ethnic origin Caucasoid; Norway
Family history Inherited
Relative AIREbase; A0188
Relative AIREbase; A0189
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH+; SCC+;
//
ID #L323X373(49b),#L323X373(49b); standard; MUTATION; PHD,PHD
Accession A0188
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P8
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 26
Sex XY
Ethnic origin Caucasoid; Norway
Family history Inherited
Relative AIREbase; A0187
Relative AIREbase; A0189
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Hypothyroidism; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia;
Symptoms Presence of autoantibodies
Symptoms AADC+; 21OH+; GAD+;
//
ID #L323X373(49c),#L323X373(49c); standard; MUTATION; PHD,PHD
Accession A0189
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P9
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 30
Sex XX
Ethnic origin Caucasoid; Norway
Family history Inherited
Relative AIREbase; A0187
Relative AIREbase; A0188
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Hypothyroidism; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia; Vitiligo;
Symptoms Presence of autoantibodies
Symptoms AADC+; 21OH+; TPH+; GAD+;
//
ID @M388X423(1),#L323X373(50); standard; MUTATION; PRR,PHD
Accession A0190
Systematic name Allele 1: g.11760_11761insA, c.1163_1164insA,
Systematic name r.1163_1164insa, p.Met388fsX36
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P10
Description Allele 1: A frame shift insertion mutation in the exon 10
Description leading to a premature stop codon in the PRR domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PRR domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AB006684: 11761
Feature /change: +a
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1291
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 388
Feature /change: M -> IGHDSCLQAP AGSAFCSPAA RAGLLGPAPP TVCGSX
Feature /domain: PRR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 22
Sex XY
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Enamel
Symptoms hypoplasia; Nail dystrophy;
Symptoms Presence of autoantibodies
Symptoms AADC+; 21OH+; TPH+; TH+;
//
ID #L323X373(51),@L417X423(1); standard; MUTATION; PHD,PRR
Accession A0191
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.11846dupC, c.1249dupC, r.1249dupc, p.Leu417fsX7
Original code P11
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift duplication mutation in the exon 10
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: EMBL: AB006684: 11847
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1377
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 417
Feature /change: L -> PTVCGSX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 30
Sex XY
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Alopecia; Malabsorption; Chronic active
Symptoms hepatitis;
Symptoms Presence of autoantibodies
Symptoms AADC+; 21OH+;
//
ID #L323X373(52),#L323X373(52); standard; MUTATION; PHD,PHD
Accession A0193
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P13
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 35
Sex XY
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia; Alopecia; oral squamous
Symptoms cell carcinoma;
Symptoms Presence of autoantibodies
Symptoms AADC+; 21OH+; SCC+; TH+;
//
ID #L323X373(54),#L323X373(54); standard; MUTATION; PHD,PHD
Accession A0194
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P14
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 44
Sex XY
Ethnic origin Caucasoid; Norway
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Hypothyroidism; Mucocutaneous
Symptoms candidiasis;
Symptoms Presence of autoantibodies
Symptoms AADC+; SCC+; TPH+; GAD+;
Comment Affected sister, deceased in 10 years age.
//
ID #L323X373(56),#L323X373(56); standard; MUTATION; PHD,PHD
Accession A0195
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P17
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 48
Sex XX
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms Mucocutaneous candidiasis;
Symptoms Presence of autoantibodies
Symptoms 21OH+; SCC+;
//
ID #L323X373(58),#L323X373(58); standard; MUTATION; PHD,PHD
Accession A0196
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P18
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 49
Sex XX
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms Mucocutaneous candidiasis;
Symptoms Presence of autoantibodies
Symptoms AADC+; 17OH+; 21OH+; SCC+; TPH+; GAD+;
//
ID #L323X373(60),#L323X373(60); standard; MUTATION; PHD,PHD
Accession A0199
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P23
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 61
Sex XY
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Vitiligo; Alopecia; Keratopathy;
Symptoms Presence of autoantibodies
Symptoms 21OH+;
//
ID #L323X373(62),#L323X373(62); standard; MUTATION; PHD,PHD
Accession A0202
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P26
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 36
Sex XY
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Addison's disease;
Symptoms Presence of autoantibodies
Symptoms 21OH-; SCC+; GAD-;
//
ID #L323X373(63),@L417X423(4); standard; MUTATION; PHD,PRR
Accession A0206
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: g.11846dupC, c.1249dupC, r.1249dupc, p.Leu417fsX7
Original code P30
Description Allele 1: A frame shift deletion mutation in the exon 8
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A frame shift duplication mutation in the exon 10
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: EMBL: AB006684: 11847
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1377
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 417
Feature /change: L -> PTVCGSX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 49
Sex XY
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Alopecia;
Symptoms Presence of autoantibodies
Symptoms AADC+; 21OH+; SCC+; TPH+;
//
ID #L323X373(65),#L323X373(65); standard; MUTATION; PHD,PHD
Accession A0209
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P33
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 48
Sex XY
Ethnic origin Caucasoid; Norway
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis;
Comment Affected cousin.
//
ID #L323X373(72),#L323X373(72); standard; MUTATION; PHD,PHD
Accession A0230
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code Case8
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 57
Sex XX
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Alopecia; Premature ovarian
Symptoms failure; Autoimmune hepatitis; Arthrosis;
//
ID #L323X373(73),#L323X373(73); standard; MUTATION; PHD,PHD
Accession A0231
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code Case16
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18616706
RefAuthors Cervato, S., Mariniello, B., Lazzarotto, F., Morlin, L.,
RefAuthors Zanchetta, R., Radetti, G., De Luca, F., Valenzise, M.,
RefAuthors Giordano, R., Rizzo, D., Giordano, C., Betterle, C.
RefTitle Evaluation of the autoimmune regulator (AIRE) gene
RefTitle mutations in a cohort of italian patients with autoimmune-
RefTitle polyendocrinopathy-candidiasis-ectodermal-
RefTitle dystrophy (APECED) and in their relatives.
RefLoc Clin Endocrinol (Oxf):421-428 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 39
Sex XX
Ethnic origin Italy
Symptoms Clinical characteristics of patients
Symptoms Chronic Hypoparathyroidism; Addison's disease;
Symptoms Chronic candidiasis; Vitiligo; Alopecia;
Symptoms Cancer of lip;
//
ID #L323X373(74),#L323X373(74); standard; MUTATION; PHD,PHD
Accession A0254
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P.6
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19807739
RefAuthors Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani,
RefAuthors N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G.,
RefAuthors Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc Clin Genet:441-448 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis dystrophy (APECED)
Age 4
Sex XX
Parents Consanguineous
Ethnic origin India
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Hypothyroidism; Diabetes mellitus;
Symptoms Malabsorption; Candidiasis; ;
Symptoms Presence of autoantibodies
Symptoms TMA+;
Comment Patient died of septicemia.
Comment Two of the siblings of the patient died.
//
ID #L323X373(75),#L323X373(75); standard; MUTATION; PHD,PHD
Accession A0255
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P.7
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19807739
RefAuthors Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani,
RefAuthors N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G.,
RefAuthors Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc Clin Genet:441-448 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis dystrophy (APECED)
Age 16
Sex XX
Parents Non consanguineous
Ethnic origin India
Relative AIREbase; A0256 sibling
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Malabsorption;
Symptoms Candidiasis; ;
Symptoms Presence of autoantibodies
Symptoms 21OH+; PCA+; GAD+;
Comment One of the siblings of the patient had died.
//
ID #L323X373(76),#L323X373(76); standard; MUTATION; PHD,PHD
Accession A0256
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P.8
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19807739
RefAuthors Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani,
RefAuthors N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G.,
RefAuthors Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc Clin Genet:441-448 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis dystrophy (APECED)
Age 6
Sex XX
Parents Non consanguineous
Ethnic origin India
Relative AIREbase; A0255 sibling
Symptoms Clinical characteristics of patients
Symptoms Addison's disease;
Comment One of the siblings or the patient had died.
//
ID #L323X373(77),#L323X373(77); standard; MUTATION; PHD,PHD
Accession A0257
Systematic name Allele 1 and 2: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Original code P.9
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19807739
RefAuthors Zaidi, G., Sahu, R. P., Zhang, L., George, G., Bhavani,
RefAuthors N., Shah, N., Bhatia, V., Bhansali, A., Jevalikar, G.,
RefAuthors Jayakumar, R. V., Eisenbarth, G. S., Bhatia, E.
RefTitle Two novel AIRE mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy (APECED) among indians.
RefLoc Clin Genet:441-448 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
Diagnosis Autoimmune polyrndocrinopathy-candidiasis-ectodermal
Diagnosis dystrophy (APECED)
Age 15
Sex XX
Parents Consanguineous
Ethnic origin India
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Candidiasis; ;
Symptoms Presence of autoantibodies
Symptoms 21OH+; TPO+; PCA+;
//
ID #L323X373(78a),Deletion(2a); standard; MUTATION; PHD,
Accession A0265
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: c.[(?_68)_(1567-14_?)del]
Original code 1/A
Description Allele 1: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Description Allele 2: Large deletion from exon 1 to exon 13
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18682433
RefAuthors Podkrajsek, K. T., MilenkoviA?, T., Odink, R. J., Claasen-
RefAuthors van der Grinten, H. L., Bratanic, N., Hovnik, T.,
RefAuthors Battelino, T.
RefTitle Detection of a complete autoimmune regulator gene deletion
RefTitle and two additional novel mutations in a cohort of patients
RefTitle with atypical phenotypic variants of autoimmune
RefTitle polyglandular syndrome type 1.
RefLoc Eur J Endocrinol:633-639 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Age 2
Sex XY
Ethnic origin Dutch
Relative AIREbase; A0266;
Symptoms Addison's disease; Mucocutaneous candidiasis; Ectodermal
Symptoms dystrophy; Chronic headaches; Allergy;;
//
ID #L323X373(78b),Deletion(2b); standard; MUTATION; PHD,
Accession A0266
Systematic name Allele 1: g.9882_9894delCTGTCCCCTCCGC,
Systematic name c.967_979delCTGTCCCCTCCGC, r.967_979delcuguccccuccgc,
Systematic name p.Leu323fsX51
Systematic name Allele 2: c.[(?_68)_(1567-14_?)del]
Original code 2/A
Description Allele 1: A frame shift deletion mutation in the exon
Description 8 leading to a premature stop codon in the PHD domain
Description Allele 2: Large deletion from exon 1 to exon 13
Date 04-Aug-2010 (Rel. 1, Created)
Date 04-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18682433
RefAuthors Podkrajsek, K. T., MilenkoviA?, T., Odink, R. J., Claasen-
RefAuthors van der Grinten, H. L., Bratanic, N., Hovnik, T.,
RefAuthors Battelino, T.
RefTitle Detection of a complete autoimmune regulator gene deletion
RefTitle and two additional novel mutations in a cohort of patients
RefTitle with atypical phenotypic variants of autoimmune
RefTitle polyglandular syndrome type 1.
RefLoc Eur J Endocrinol:633-639 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: EMBL: AB006684: 9882..9894
Feature /change: -ctgtcccctc cgc
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1094..1106
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 323..327
Feature /change: LSPPL ->
Feature /change: SGRSPVGPGG APAACRQQSR RCSPGQRSPG PRSHPWRPRS
Feature /change: PRGLGRRERR X
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Age 5
Sex XX
Ethnic origin Dutch
Relative AIREbase; A0265;
Symptoms Addison's disease; Mucocutaneous candidiasis; Ectodermal
Symptoms dystrophy; Complex epilepsy; Hypogonadism;
Symptoms Hypoparathyroidism; Hypothalamic pituitary dysfunction;
//
ID @S324X372(1),@S324X372(1); standard; MUTATION; PHD,PHD
Accession A0011
Systematic name Allele 1 and 2: g.9884_9885insCCTG, c.1096_1097insCCTG,
Systematic name p.S324fsX372
Original code FamB
Description Allele 1 and 2: insertion in the exon 8 leading to stop
Description codon in the PHD domain
Date 22-Oct-2001 (Rel. 1, Created)
Date 22-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9717837
RefAuthors Scott, H. S., Heino, M., Peterson, P., Mittaz, L.,
RefAuthors Lalioti, M. D., Betterle, C., Cohen, A., Seri, M., Lerone,
RefAuthors M., Romeo, G., Collin, P., Salo, M., Metcalfe, R.,
RefAuthors Weetman, A., Papasavvas, M. P., Rossier, C., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Krohn, K. J., Antonarakis, S. E.
RefTitle Common mutations in autoimmune polyendocrinopathy-
RefTitle candidiasis-ectodermal dystrophy patients of different
RefTitle origins.
RefLoc Mol Endocrinol 12:1112-1119 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 9885
Feature /change: +cctg
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1097
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 324
Feature /change: S
Feature /change: -> PVPSAPGDPQ WDLEVLQLPA GNSPGGAAPG RGAPAPGATR
Feature /change: GDPAPPGAX
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 9885
Feature /change: +cctg
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1097
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 324
Feature /change: S
Feature /change: -> PVPSAPGDPQ WDLEVLQLPA GNSPGGAAPG RGAPAPGATR
Feature /change: GDPAPPGAX
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:3; PKFL:5;
Haplotype Allele 2:
Haplotype D21S1912:3; PKFL:5;
Ethnic origin Italy
//
ID @P357X379(1),?; standard; MUTATION; PRR,
Accession A0163
Systematic name Allele 1: g.11070_11074dup, c.1064_1068dup,
Systematic name r.1064_1068dup, p.Gln358fsX22
Original code 12/J
Description Allele 1: A frame shift duplication mutation in the
Description exon 9 leading to a premature stop codon in the PRR domain
Date 29-Sep-2006 (Rel. 1, Created)
Date 29-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15886230
RefAuthors Podkrajsek, K. T., Bratanic, N., Krzisnik, C., Battelino,
RefAuthors T.
RefTitle Autoimmune regulator-1 messenger ribonucleic acid analysis
RefTitle in a novel intronic mutation and two additional novel AIRE
RefTitle gene mutations in a cohort of autoimmune
RefTitle polyendocrinopathy-candidiasis-ectodermal dystrophy
RefTitle patients.
RefLoc J Clin Endocrinol Metab:4930-4935 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0003: 11075
Feature /change: +cccgg
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1196
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 357
Feature /change: P -> PGPRSHPWRP RSPRGLGRRE RRX
Feature /domain: PRR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XY
Ethnic origin Caucasoid; Slovenia
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Hypothyroidism; Mucocutaneous
Symptoms candidiasis; Malabsorption; Ectodermal dystrophy;
//
ID #A505X520(1a),@P368X371(1a); standard; MUTATION; ,PRR
Accession A0093
Systematic name Allele 1: g.15091delG, c.1640delG, p.A505fsX520
Systematic name Allele 2: g.11700_11701insC, c.1230_1231insC, p.P368fsX371
Original code Case 1
Description Allele 1: deletion in the exon 13 leading to a premature
Description stop codon
Description Allele 2: frameshift insertion in the exon 10 leading to a
Description premature stop codon in the PRR domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10946904
RefAuthors Ishii, T., Suzuki, Y., Ando, N., Matsuo, N., Ogata, T.
RefTitle Novel mutations of the autoimmune regulator gene in two
RefTitle siblings with autoimmune polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy.
RefLoc J Clin Endocrinol Metab 85:2922-2926 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 15091
Feature /change: -g
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1640
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 505
Feature /change: A -> PVTSPLCTGM TWSPFX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 11701
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1231
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 368
Feature /change: P -> PGAX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Sex XX
Ethnic origin Mongoloid; Allele 1:Korea; Allele 2:Japan
Relative AIREbase; A0094 brother
//
ID #A505X520(1b),@P368X371(1b); standard; MUTATION; ,PRR
Accession A0094
Systematic name Allele 1: g.15091delG, c.1640delG, p.A505fsX520
Systematic name Allele 2: g.11700_11701insC, c.1230_1231insC, p.P368fsX371
Original code Case 2
Description Allele 1: deletion in the exon 13 leading to a premature
Description stop codon
Description Allele 2: frameshift insertion in the exon 10 leading to a
Description premature stop codon in the PRR domain
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10946904
RefAuthors Ishii, T., Suzuki, Y., Ando, N., Matsuo, N., Ogata, T.
RefTitle Novel mutations of the autoimmune regulator gene in two
RefTitle siblings with autoimmune polyendocrinopathy-candidiasis-
RefTitle ectodermal dystrophy.
RefLoc J Clin Endocrinol Metab 85:2922-2926 (2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 15091
Feature /change: -g
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1640
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 505
Feature /change: A -> PVTSPLCTGM TWSPFX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 11701
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1231
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 368
Feature /change: P -> PGAX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Symptoms Clinical characteristics of patients
Symptoms Mucocutaneous candidiasis;
Sex XY
Ethnic origin Mongoloid; Allele 1:Korea; Allele 2:Japan
Relative AIREbase; A0093 sister
//
ID @A413X424(1a),@A413X424(1a); standard; MUTATION; PRR,PRR
Accession A0238
Systematic name Allele 1 and 2: g.11833_11834insGCCG, c.1236_1237insGCCG,
Systematic name r.1236_1237insgccg, p.Leu414fsX11
Original code 1.III-9
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 10 leading to a premature stop codon in the PRR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19758376
RefAuthors Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A.,
RefAuthors Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S.,
RefAuthors Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel,
RefAuthors F., Zaidi, S. H.
RefTitle Novel and recurrent mutations in the AIRE gene of
RefTitle autoimmune polyendocrinopathy syndrome type 1 (APS1)
RefTitle patients.
RefLoc Clin Genet:431-440 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AB006684: 11834
Feature /change: +gccg
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1364
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 413
Feature /change: A -> AGPAPPTVCG SX
Feature /domain: PRR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AB006684: 11834
Feature /change: +gccg
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1364
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 413
Feature /change: A -> AGPAPPTVCG SX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 14
Sex XX
Ethnic origin Saudi Arab
Relative AIREbase; A0239 sister
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms Addison's disease;
//
ID @A413X424(1b),@A413X424(1b); standard; MUTATION; PRR,PRR
Accession A0239
Systematic name Allele 1 and 2: g.11833_11834insGCCG, c.1236_1237insGCCG,
Systematic name r.1236_1237insgccg, p.Leu414fsX11
Original code 1.III-13
Description Allele 1 and 2: A frame shift insertion mutation in the
Description exon 10 leading to a premature stop codon in the PRR domain
Date 14-Jul-2010 (Rel. 1, Created)
Date 14-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19758376
RefAuthors Faiyaz-Ul-Haque, M., Bin-Abbas, B., Al-Abdullatif, A.,
RefAuthors Abdullah Abalkhail, H., Toulimat, M., Al-Gazlan, S.,
RefAuthors Almutawa, A. M., Al-Sagheir, A., Peltekova, I., Al-Dayel,
RefAuthors F., Zaidi, S. H.
RefTitle Novel and recurrent mutations in the AIRE gene of
RefTitle autoimmune polyendocrinopathy syndrome type 1 (APS1)
RefTitle patients.
RefLoc Clin Genet:431-440 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: EMBL: AB006684: 11834
Feature /change: +gccg
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1364
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 413
Feature /change: A -> AGPAPPTVCG SX
Feature /domain: PRR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: EMBL: AB006684: 11834
Feature /change: +gccg
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1364
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 413
Feature /change: A -> AGPAPPTVCG SX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 17
Sex XX
Ethnic origin Saudi Arab
Relative AIREbase; A0238 sister
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms Mucocutaneous candidiasis;
//
ID @L417X423(2),@L417X423(2); standard; MUTATION; PRR,PRR
Accession A0192
Systematic name Allele 1: g.11846dupC, c.1249dupC, r.1249dupc, p.Leu417fsX7
Systematic name Allele 2: g.11846dupC, c.1249dupC, r.1249dupc, p.Leu417fsX7
Original code P12
Description Allele 1: A frame shift duplication mutation in the exon 10
Description leading to a premature stop codon in the PRR domain
Description Allele 2: A frame shift duplication mutation in the exon 10
Description leading to a premature stop codon in the PRR domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17118990
RefAuthors Wolff, A. S., Erichsen, M. M., Meager, A., Magitta, N. F.,
RefAuthors Myhre, A. G., Bollerslev, J., Fougner, K. J., Lima, K.,
RefAuthors Knappskog, P. M., Husebye, E. S.
RefTitle Autoimmune polyendocrine syndrome type 1 in norway:
RefTitle phenotypic variation, autoantibodies, and novel mutations
RefTitle in the autoimmune regulator gene.
RefLoc J Clin Endocrinol Metab:595-603 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: EMBL: AB006684: 11847
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1377
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 417
Feature /change: L -> PTVCGSX
Feature /domain: PRR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: EMBL: AB006684: 11847
Feature /change: +c
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1377
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 417
Feature /change: L -> PTVCGSX
Feature /domain: PRR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 39
Sex XX
Ethnic origin Caucasoid; Norway
Family history Not known
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Gonadal failure;
Symptoms Hypothyroidism; Mucocutaneous candidiasis; Alopecia;
Symptoms Presence of autoantibodies
Symptoms 17OH+; 21OH+; SCC+;
//
ID #P422X479(2),?; standard; MUTATION; PRR
Accession A0086
Systematic name Allele 1: g.11861delC, c.1391delC, p.P422fsX479
Original code 12
Description Allele 1: deletion in the exon 10 leading to a premature
Description stop codon in the PRR domain
Description Allele 2: Not identified
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9888391
RefAuthors Heino, M., Scott, H. S., Chen, Q., Peterson, P., Maenpaa,
RefAuthors U., Papasavvas, M. P., Mittaz, L., Barras, C., Rossier,
RefAuthors C., Chrousos, G. P., Stratakis, C. A., Nagamine, K.,
RefAuthors Kudoh, J., Shimizu, N., Maclaren, N., Antonarakis, S. E.,
RefAuthors Krohn, K.
RefTitle Mutation analyses of north american APS-1 patients.
RefLoc Hum Mutat 13:69-74 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 11861
Feature /change: -c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1391
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 422
Feature /change: P
Feature /change: -> LRVSRTWLLV RVAGCAEMVR TCCGVLTAPL PSTGAATSQP
Feature /change: APPGPGRACA ADPAQETX
Feature /domain: PRR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:7;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:5;
Ethnic origin Caucasoid; North America
//
ID @A432X480(1),?; standard; MUTATION;
Accession A0068
Systematic name Allele 1: g.12504_12505insAC, c.1421_1422insAC, p.A432fsX480
Original code 214B
Description Allele 1: insertion in the exon 11
Description Allele 2: Not identified
Date 23-Oct-2001 (Rel. 1, Created)
Date 23-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0003: 12505
Feature /change: +ac
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1422
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 432
Feature /change: A
Feature /change: -> DRVAGCAEMV RTCCGVLTAP LPSTGAATSQ PAPPGPGRAC
Feature /change: AADPAQETX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5; PKFL:5; D21S171:5;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Chronic active hepatitis;
Sex XX
Ethnic origin Caucasoid; USA
//
ID #G438X499(1),#G438X499(1); standard; MUTATION; PHD,PHD
Accession A0210
Systematic name Allele 1 and 2: g.12524_12536delinsGT, c.1314_1326delinsGT,
Systematic name r.1314_1326delinsgu, p.Asp439fsX61
Original code patient
Description Allele 1 and 2: A frame shift indel mutation in the exon 11
Description leading to a premature stop codon in the PHD domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17891543
RefAuthors Lintas, C., Cappa, M., Comparcola, D., Nobili, V.,
RefAuthors Fierabracci, A.
RefTitle An 8-year-old boy with autoimmune hepatitis and candida
RefTitle onychosis as the first symptoms of autoimmune
RefTitle polyglandular syndrome (APS1): identification of a new
RefTitle homozygous mutation in the autoimmune regulator
RefTitle gene (aire).
RefLoc Eur J Pediatr (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: EMBL: AB006684: 12524..12536
Feature /change: agatggtacg gac -> gt
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1441..1453
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 438..442
Feature /change: GDGTD ->
Feature /change: GCAAVYSLRR CLPLALPLPS RHLPARDGPA LQILLRRRDP
Feature /change: SPCGGGAGPQ PRPPGPWACQ GX
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: EMBL: AB006684: 12524..12536
Feature /change: agatggtacg gac -> gt
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: EMBL: AB006682; GI:2696614; : 1441..1453
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: O43918; AIRE_HUMAN: 438..442
Feature /change: GDGTD ->
Feature /change: GCAAVYSLRR CLPLALPLPS RHLPARDGPA LQILLRRRDP
Feature /change: SPCGGGAGPQ PRPPGPWACQ GX
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Age 16
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Mucocutaneous candidiasis; Chronic
Symptoms active hepatitis; Diabetes insipidus;
Symptoms Presence of autoantibodies
Symptoms AADC+; TPH+;
Comment Parents are heterozygous
//
ID @H448X503(1),Intron 11(1); standard; MUTATION; PHD,PHD
Accession A0154
Systematic name Allele 1: g.12554delinsTT, c.1344delinsTT, r.1344delinsuu,
Systematic name p.Cys449fsX55
Systematic name Allele 2: g.IVS11+1G>A, c.1400+1G>A, r.1400+1g>a
Description Allele 1: A frame shift indel mutation in the exon 11
Description leading to a premature stop codon in the PHD domain
Description Allele 2: A point mutation in the intron 11 leading to an
Description amino acid change in the PHD domain
Date 22-Sep-2006 (Rel. 1, Created)
Date 22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15270412
RefAuthors Sato, U., Horikawa, R., Katsumata, N., Asakura, Y.,
RefAuthors Kitanaka, S., Tanaka, T.
RefTitle Novel compound heterozygous AIRE mutations in a japanese
RefTitle patient with APECED.
RefLoc J Pediatr Endocrinol Metab:917-921 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0003: 12554
Feature /change: c -> tt
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0003: 1471
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O43918; AIRE_HUMAN: 448
Feature /change: H ->
Feature /change: HLRRCLPLAL PLPSRHLPAR DGPALQILLR RRDPSPCGGG
Feature /change: AGPQPRPPGP WACQGX
Feature /domain: PHD
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 12611
Feature /change: g -> a
Feature /genomic_region: intron; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /domain: PHD
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Mongoloid; Japan
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis;
//
ID P539L(1),P539L(1); standard; MUTATION;
Accession A0150
Systematic name Allele 1 and 2: g.16404C>T, c.1616C>T, r.1616c>u,
Systematic name p.Pro539Leu
Original code 11/H
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description an amino acid change
Date 22-Sep-2006 (Rel. 1, Created)
Date 22-Sep-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11836330
RefAuthors Meloni, A., Perniola, R., Faa, V., Corvaglia, E., Cao, A.,
RefAuthors Rosatelli, M. C.
RefTitle Delineation of the molecular defects in the AIRE gene in
RefTitle autoimmune polyendocrinopathy-candidiasis-ectodermal
RefTitle dystrophy patients from southern italy.
RefLoc J Clin Endocrinol Metab:841-846 (2002)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 16404
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 1743
Feature /codon: ccg -> ctg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 539
Feature /change: P -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0003: 16404
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0003: 1743
Feature /codon: ccg -> ctg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: O43918; AIRE_HUMAN: 539
Feature /change: P -> L
Diagnosis Autoimmune polyglandular syndrome type 1
Sex XX
Ethnic origin Caucasoid; Italy
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Enamel hypoplasia; Hypogonadism (prepubertal
Symptoms age); Nephrocalcinosis;
//
ID Intron 1(2),Intron 1(2); standard; MUTATION; HSR,HSR
Accession A0211
Systematic name Allele 1 and 2: g.IVS1+1G>C; g.IVS1+5G>, c.132+1G>C;
Systematic name c.132+5G>, r.132+1g>c; r.132+5g>
Original code patient
Description Allele 1 and 2: A point mutation and a deletion in the
Description intron 1 leading to an amino acid change in the HSR domain
Date 18-Apr-2008 (Rel. 1, Created)
Date 18-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18248641
RefAuthors Capalbo, D., Elefante, A., Spagnuolo, M. I., Mazza, C.,
RefAuthors Betterle, C., Pignata, C., Salerno, M.
RefTitle Posterior reversible encephalopathy syndrome in a child
RefTitle during an accelerated phase of a severe APECED phenotype
RefTitle due to an uncommon mutation of AIRE.
RefLoc Clin Endocrinol (Oxf) (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: EMBL: AB006684: 4839
Feature /change: g -> c
Feature /genomic_region: intron; 1
Feature dna; 2
Feature /rnalink: 4
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 4843
Feature /change: -g
Feature /genomic_region: intron; 1
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: unknown
Feature /inexloc: +1
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 5
Feature /rnalink: 3
Feature /name: unknown
Feature /domain: HSR
Feature aa; 6
Feature /rnalink: 4
Feature /name: unknown
Feature /domain: HSR
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: point
Feature /loc: EMBL: AB006684: 4839
Feature /change: g -> c
Feature /genomic_region: intron; 1
Feature dna; 8
Feature /rnalink: 10
Feature /name: deletion
Feature /loc: IDRefSeq: D0003: 4843
Feature /change: -g
Feature /genomic_region: intron; 1
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: unknown
Feature /inexloc: +1
Feature rna; 10
Feature /dnalink: 7
Feature /aalink: 12
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 11
Feature /rnalink: 9
Feature /name: unknown
Feature /domain: HSR
Feature aa; 12
Feature /rnalink: 10
Feature /name: unknown
Feature /domain: HSR
Diagnosis Autoimmune polyglandular syndrome type 1
Age 5
Sex XY
Ethnic origin Caucasoid; Italy
Family history Inherited
Symptoms Clinical characteristics of patients
Symptoms Addison's disease; Hypothyroidism; Mucocutaneous
Symptoms candidiasis; Vitiligo; Alopecia; Nail dystrophy; Chronic
Symptoms active hepatitis; PRES;
Symptoms Presence of autoantibodies
Symptoms AADC+; 17OH+; 21OH+; TPH+;
Comment Parents are heterozygous
//
ID Intron 3(1a),?; standard; MUTATION;
Accession A0069
Systematic name Allele 1: g.IVS3+2T>C
Original code 118A
Description Allele 1: point mutation in the intron 3
Description Allele 2: Not identified
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5835
Feature /change: t -> c
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:5; D21S171:7;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Alopecia; Ovarian
Symptoms failure;
Sex XX
Ethnic origin Caucasoid; USA
Relative AIREbase; A0070; brother
Relative AIREbase; A0071; sister
//
ID Intron 3(1b),?; standard; MUTATION;
Accession A0070
Systematic name Allele 1: g.IVS3+2T>C
Original code 118B
Description Allele 1: point mutation in the intron 3
Description Allele 2: Not identified
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5835
Feature /change: t -> c
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:5; D21S171:7;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Alopecia;
Sex XY
Ethnic origin Caucasoid; USA
Relative AIREbase; A0069; sister
Relative AIREbase; A0071; sister
//
ID Intron 3(1c),?; standard; MUTATION;
Accession A0071
Systematic name Allele 1: g.IVS3+2T>C
Original code 118C
Description Allele 1: point mutation in the intron 3
Description Allele 2: Not identified
Date 24-Oct-2001 (Rel. 1, Created)
Date 24-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9921903
RefAuthors Wang, C. Y., Davoodi-Semiromi, A., Huang, W., Connor, E.,
RefAuthors Shi, J. D., She, J. X.
RefTitle Characterization of mutations in patients with autoimmune
RefTitle polyglandular syndrome type 1 (APS1).
RefLoc Hum Genet 103:681-685 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0003: 5835
Feature /change: t -> c
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:4; PKFL:5; D21S171:7;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Alopecia;
Sex XX
Ethnic origin Caucasoid; USA
Relative AIREbase; A0069; sister
Relative AIREbase; A0070; brother
//
ID Deletion (1),Deletion (1); standard; MUTATION;
Accession A0123
Original code M51
Description Allele 1 and 2: Large undefined deletion from intron 1 to
Description intron 4
Date 25-Oct-2001 (Rel. 1, Created)
Date 25-Oct-2001 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11524733
RefAuthors Cihakova, D., Trebusak, K., Heino, M., Fadeyev, V.,
RefAuthors Tiulpakov, A., Battelino, T., Tar, A., Halasz, Z., Blumel,
RefAuthors P., Tawfik, S., Krohn, K., Lebl, J., Peterson, P.
RefTitle Novel AIRE mutations and P450 cytochrome autoantibodies in
RefTitle central and eastern european patients with APECED.
RefLoc Hum Mutat 18:225-232 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 2,3,4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 2,3,4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Diagnosis Autoimmune polyglandular syndrome type 1
Haplotype Allele 1:
Haplotype D21S1912:5; PKFL:3;
Haplotype Allele 2:
Haplotype D21S1912:5; PKFL:3;
Symptoms Clinical characteristics of patients
Symptoms Hypoparathyroidism; Addison's disease; Mucocutaneous
Symptoms candidiasis; Alopecia; Malabsorption;
Symptoms Presence of autoantibodies
Symptoms 17OH-; 21OH-; SCC+;
Ethnic origin Azerbaijan
//
//
This site is updated by
Gerard Schaafsma
© Protein Structure and Bioinformatics, Lund University, 2017
Last modified 17.04.2024 |
