Database SBDSbase
Version 1.1
File sbdspub.html
Date 16-Jun-2011
Curator Laszlo Marodi and 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/SBDSbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF84.html
Gene SBDS
Disease Shwachman-Diamond syndrome
OMIM 607444
Sequence IDRefSeq:D0076; IDRefSeq:C0076; UniProt:Q9Y3A5
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R19Q(1),Intron 2(165); standard; MUTATION;
Accession S0170
Systematic name Allele 1: g.1240G>A, c.56G>A, r.56g>a, p.Arg19Gln
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 03-Oct-2006 (Rel. 1, Created)
Date 03-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 1240
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 240
Feature /codon: cgg -> cag; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 19
Feature /change: R -> Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID F27L(1),&S61(128); standard; MUTATION;
Accession S0195
Systematic name Allele 1: g.1263T>C, c.79T>C, r.79u>c, p.Phe27Leu
Systematic name Allele 2: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Original code Patient 1
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change
Description Allele 2: A complex mutation in the exon 2 leading to an
Description amino acid change
Date 28-May-2008 (Rel. 1, Created)
Date 28-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17400792
RefAuthors Nishimura, G., Nakashima, E., Hirose, Y., Cole, T., Cox,
RefAuthors P., Cohn, D. H., Rimoin, D. L., Lachman, R. S., Miyamoto,
RefAuthors Y., Kerr, B., Unger, S., Ohashi, H., Superti-Furga, A.,
RefAuthors Ikegawa, S.
RefTitle The shwachman-bodian-diamond syndrome gene mutations cause
RefTitle a neonatal form of spondylometaphysial dysplasia (SMD)
RefTitle resembling SMD sedaghatian type.
RefLoc J Med Genet:e73 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 1263
Feature /change: t -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 263
Feature /codon: ttc -> ctc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 27
Feature /change: F -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 6
Feature /rnalink: 5
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Symptoms a narrow thorax, rhizomeric shortening of the limbs,
Symptoms hypotonia, poor breathing, tracheomalacia with stenosis,
Symptoms seizures, bilateral hearing impairment, markedly retarded,
Symptoms severe dense platyspondyly, lacy iliac crests, delayed
Symptoms ossification of the caudal ilia, metaphysial cupping,
Symptoms irregularity of the tubular bones, diagnosed with SMD
Symptoms Sedaghatian type
Sex XX
Ethnic origin Mongoloid; Japan
Parents Non-consanguineous
//
ID C31W(1),Intron 2(166); standard; MUTATION;
Accession S0171
Systematic name Allele 1: g.1277C>G, c.93C>G, r.93c>g, p.Cys31Trp
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 03-Oct-2006 (Rel. 1, Created)
Date 03-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 1277
Feature /change: c -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 277
Feature /codon: tgc -> tgg; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 31
Feature /change: C -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID Y32C(1),Intron 2(137); standard; MUTATION;
Accession S0140
Systematic name Allele 1: g.1279A>G, c.95A>G, r.95a>g, p.Tyr32Cys
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 11
Description Allele 1: a point mutation in the exon 1 leading to an
Description amino acid change
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 18-Apr-2005 (Rel. 1, Created)
Date 18-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 1279
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 279
Feature /codon: tac -> tgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 32
Feature /change: Y -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms short ribs with broadened anterior ends, neutropenia,
Symptoms thrombocytopenia
Age 20
Sex XY
Ethnic origin Caucasoid; Italy
//
ID K33E(1),Intron 2(167); standard; MUTATION;
Accession S0172
Systematic name Allele 1: g.1281A>G, c.97A>G, r.97a>g, p.Lys33Glu
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 03-Oct-2006 (Rel. 1, Created)
Date 03-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 1281
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 281
Feature /codon: aaa -> gaa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 33
Feature /change: K -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID N34I(1),Intron 2(129); standard; MUTATION;
Accession S0132
Systematic name Allele 1: g.1285A>T, c.101A>T, r.101a>u, p.Asn34Ile
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 3
Description Allele 1: a point mutation in the exon 1 leading to an
Description amino acid change
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 15-Apr-2005 (Rel. 1, Created)
Date 15-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 1285
Feature /change: a -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 285
Feature /codon: aac -> atc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 34
Feature /change: N -> I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms metaphyseal dyschondroplasia of the femoral head, short
Symptoms ribs with broadened anterior ends, narrow chest, genu
Symptoms valgum, neutropenia, thrombocytopenia
Age 16
Sex XY
Ethnic origin Caucasoid; Italy
//
ID N34I(2),Intron 2(168); standard; MUTATION;
Accession S0173
Systematic name Allele 1: g.1285A>T, c.101A>T, r.101a>u, p.Asn34Ile
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 03-Oct-2006 (Rel. 1, Created)
Date 03-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 1285
Feature /change: a -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 285
Feature /codon: aac -> atc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 34
Feature /change: N -> I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID N34I(3),Intron 2(183); standard; MUTATION;
Accession S0189
Systematic name Allele 1: g.1285A>T, c.101A>T, r.101a>u, p.Asn34Ile
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code UPN 6
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Oct-2006 (Rel. 1, Created)
Date 10-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16382447
RefAuthors Maserati, E., Minelli, A., Pressato, B., Valli, R.,
RefAuthors Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L.,
RefAuthors Poli, F., Panarello, C., Zecca, M., Curto, F. L., Mecucci,
RefAuthors C., Danesino, C., Pasquali, F.
RefTitle Shwachman syndrome as mutator phenotype responsible for
RefTitle myeloid dysplasia/neoplasia through karyotype instability
RefTitle and chromosomes 7 and 20 anomalies.
RefLoc Genes Chromosomes Cancer:375-382 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 1285
Feature /change: a -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 285
Feature /codon: aac -> atc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 34
Feature /change: N -> I
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID N34S(1),&S61(145); standard; MUTATION;
Accession S0223
Systematic name Allele 1: g.1285A>G, c.101A>G, r.101a>g, p.Asn34Ser
Systematic name Allele 2: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change
Description Allele 2: A complex mutation in the exon 2 leading to an
Description amino acid change
Date 26-Jul-2010 (Rel. 1, Created)
Date 26-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19816210
RefAuthors Newman, A. R., Moghaddam, B., Yoon, J. M.
RefTitle A novel mutation in a fijian boy with shwachman-diamond
RefTitle syndrome.
RefLoc J Pediatr Hematol Oncol:847-849 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 1285
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 285
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 34
Feature /change: N -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 6
Feature /rnalink: 5
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Symptoms Hypoglycemia; Lethargy; Chronic diarrhea;Foul smelling;
Symptoms Loose stool; Intermittent fever;
Age 16 days
Sex XY
Ethnic origin Fiji
//
ID @N34X49(1),Intron 2(1); standard; MUTATION;
Accession S0001
Systematic name Allele 1: g.1284dupA, c.100dupA, r.100dupa, p.Asn34fsX16
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 1
Description Allele 1: a frame shift duplication mutation in the exon 1
Description leading to a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 31-Aug-2004 (Rel. 1, Created)
Date 31-Aug-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14749921
RefAuthors Nakashima, E., Mabuchi, A., Makita, Y., Masuno, M.,
RefAuthors Ohashi, H., Nishimura, G., Ikegawa, S.
RefTitle Novel SBDS mutations caused by gene conversion in
RefTitle japanese patients with shwachman-diamond syndrome.
RefLoc Hum Genet 114:345-348 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0076: 1285
Feature /change: +a
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 285
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 34
Feature /change: N -> KQGRRLAERR GKRPRX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Ethnic origin Mongoloid; Japan
//
ID #V36X58(1),Intron 2(187); standard; MUTATION;
Accession S0193
Systematic name Allele 1: g.1291delT, c.107delT, r.107delu, p.Val36fsX23
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code UPN 11
Description Allele 1: A frame shift deletion mutation in the exon 1
Description leading to a premature stop codon
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Oct-2006 (Rel. 1, Created)
Date 10-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16382447
RefAuthors Maserati, E., Minelli, A., Pressato, B., Valli, R.,
RefAuthors Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L.,
RefAuthors Poli, F., Panarello, C., Zecca, M., Curto, F. L., Mecucci,
RefAuthors C., Danesino, C., Pasquali, F.
RefTitle Shwachman syndrome as mutator phenotype responsible for
RefTitle myeloid dysplasia/neoplasia through karyotype instability
RefTitle and chromosomes 7 and 20 anomalies.
RefLoc Genes Chromosomes Cancer:375-382 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 1291
Feature /change: -t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 291
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 36
Feature /change: V -> ASAGGAAWKK TSMKFCRPTQ CLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID #R40X58(1),Intron 2(121); standard; MUTATION;
Accession S0123
Systematic name Allele 1: g.1303delG, c.119delG, r.119delg, p.Ser41fsX18
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 5
Description Allele 1: a frame shift deletion mutation in the exon 1
Description leading to a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 09-Dec-2004 (Rel. 1, Created)
Date 09-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14984468
RefAuthors Makitie, O., Ellis, L., Durie, P. R., Morrison, J. A.,
RefAuthors Sochett, E. B., Rommens, J. M., Cole, W. G.
RefTitle Skeletal phenotype in patients with shwachman-diamond
RefTitle syndrome and mutations in SBDS.
RefLoc Clin Genet 65:101-112 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 1303
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 303
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 40
Feature /change: R -> RAAWKKTSMK FCRPTQCLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID #R40X58(2),Intron 2(122); standard; MUTATION;
Accession S0124
Systematic name Allele 1: g.1303delG, c.119delG, r.119delg, p.Ser41fsX18
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 6
Description Allele 1: a frame shift deletion mutation in the exon 1
Description leading to a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 09-Dec-2004 (Rel. 1, Created)
Date 09-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14984468
RefAuthors Makitie, O., Ellis, L., Durie, P. R., Morrison, J. A.,
RefAuthors Sochett, E. B., Rommens, J. M., Cole, W. G.
RefTitle Skeletal phenotype in patients with shwachman-diamond
RefTitle syndrome and mutations in SBDS.
RefLoc Clin Genet 65:101-112 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 1303
Feature /change: -g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 303
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 40
Feature /change: R -> RAAWKKTSMK FCRPTQCLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID #S41X58(1),Intron 2(169); standard; MUTATION;
Accession S0174
Systematic name Allele 1: g.1307delC, c.123delC, r.123delc, p.Ser41fsX18
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Description Allele 1: A frame shift deletion mutation in the exon 1
Description leading to a premature stop codon
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 03-Oct-2006 (Rel. 1, Created)
Date 03-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 1307
Feature /change: -c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 307
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 41
Feature /change: S -> RAWKKTSMKF CRPTQCLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID E44G(1a),Intron 2(123a); standard; MUTATION;
Accession S0125
Systematic name Allele 1: g.2263A>G, c.131A>G, r.131a>g, p.Glu44Gly
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 15
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 09-Dec-2004 (Rel. 1, Created)
Date 09-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14984468
RefAuthors Makitie, O., Ellis, L., Durie, P. R., Morrison, J. A.,
RefAuthors Sochett, E. B., Rommens, J. M., Cole, W. G.
RefTitle Skeletal phenotype in patients with shwachman-diamond
RefTitle syndrome and mutations in SBDS.
RefLoc Clin Genet 65:101-112 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2263
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 315
Feature /codon: gaa -> gga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 44
Feature /change: E -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
Relative SBDSbase; S0126 sibling
//
ID E44G(1b),Intron 2(123b); standard; MUTATION;
Accession S0126
Systematic name Allele 1: g.2263A>G, c.131A>G, r.131a>g, p.Glu44Gly
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 16
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 09-Dec-2004 (Rel. 1, Created)
Date 09-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14984468
RefAuthors Makitie, O., Ellis, L., Durie, P. R., Morrison, J. A.,
RefAuthors Sochett, E. B., Rommens, J. M., Cole, W. G.
RefTitle Skeletal phenotype in patients with shwachman-diamond
RefTitle syndrome and mutations in SBDS.
RefLoc Clin Genet 65:101-112 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2263
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 315
Feature /codon: gaa -> gga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 44
Feature /change: E -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
Relative SBDSbase; S0125 sibling
//
ID &S61(1),Intron 2(2); standard; MUTATION;
Accession S0002
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 2
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14749921
RefAuthors Nakashima, E., Mabuchi, A., Makita, Y., Masuno, M.,
RefAuthors Ohashi, H., Nishimura, G., Ikegawa, S.
RefTitle Novel SBDS mutations caused by gene conversion in
RefTitle japanese patients with shwachman-diamond syndrome.
RefLoc Hum Genet 114:345-348 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent change 2333A>G
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature /note: also silent change 385A>G
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Ethnic origin Mongoloid; Japan
//
ID &S61(2),Intron 2(3); standard; MUTATION;
Accession S0003
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 3
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14749921
RefAuthors Nakashima, E., Mabuchi, A., Makita, Y., Masuno, M.,
RefAuthors Ohashi, H., Nishimura, G., Ikegawa, S.
RefTitle Novel SBDS mutations caused by gene conversion in
RefTitle japanese patients with shwachman-diamond syndrome.
RefLoc Hum Genet 114:345-348 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent changes 2273C>T and 2333A>G
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature /note: also silent changes 325C>T and 385A>G
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Ethnic origin Mongoloid; Japan
//
ID &S61(3a),Intron 2(5a); standard; MUTATION;
Accession S0006
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Family SW20
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
Relative SBDSbase; S0007 brother
//
ID &S61(3b),Intron 2(5b); standard; MUTATION;
Accession S0007
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Family SW20
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
Relative SBDSbase; S0006 brother
//
ID &S61(4),Intron 2(6); standard; MUTATION;
Accession S0008
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(5),Intron 2(7); standard; MUTATION;
Accession S0009
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(6),Intron 2(8); standard; MUTATION;
Accession S0010
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(7),Intron 2(9); standard; MUTATION;
Accession S0011
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(8),Intron 2(10); standard; MUTATION;
Accession S0012
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(9),Intron 2(11); standard; MUTATION;
Accession S0013
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(10),Intron 2(12); standard; MUTATION;
Accession S0014
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(11),Intron 2(13); standard; MUTATION;
Accession S0015
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(12),Intron 2(14); standard; MUTATION;
Accession S0016
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(13),Intron 2(15); standard; MUTATION;
Accession S0017
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(14),Intron 2(16); standard; MUTATION;
Accession S0018
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(15),Intron 2(17); standard; MUTATION;
Accession S0019
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(16),Intron 2(18); standard; MUTATION;
Accession S0020
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(17),Intron 2(19); standard; MUTATION;
Accession S0021
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(18),Intron 2(20); standard; MUTATION;
Accession S0022
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(19),Intron 2(21); standard; MUTATION;
Accession S0023
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(20),Intron 2(22); standard; MUTATION;
Accession S0024
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(21),Intron 2(23); standard; MUTATION;
Accession S0025
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(22),Intron 2(24); standard; MUTATION;
Accession S0026
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(23),Intron 2(25); standard; MUTATION;
Accession S0027
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(24),Intron 2(26); standard; MUTATION;
Accession S0028
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(25),Intron 2(27); standard; MUTATION;
Accession S0029
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(26),Intron 2(28); standard; MUTATION;
Accession S0030
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(27),Intron 2(29); standard; MUTATION;
Accession S0031
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(28),Intron 2(30); standard; MUTATION;
Accession S0032
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(29),Intron 2(31); standard; MUTATION;
Accession S0033
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(30),Intron 2(32); standard; MUTATION;
Accession S0034
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(31),Intron 2(33); standard; MUTATION;
Accession S0035
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(32),Intron 2(34); standard; MUTATION;
Accession S0036
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(33),Intron 2(35); standard; MUTATION;
Accession S0037
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(34),Intron 2(36); standard; MUTATION;
Accession S0038
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(35),Intron 2(37); standard; MUTATION;
Accession S0039
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(36),Intron 2(38); standard; MUTATION;
Accession S0040
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(37),Intron 2(39); standard; MUTATION;
Accession S0041
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(38),Intron 2(40); standard; MUTATION;
Accession S0042
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(39),Intron 2(41); standard; MUTATION;
Accession S0043
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(40),Intron 2(42); standard; MUTATION;
Accession S0044
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(41),Intron 2(43); standard; MUTATION;
Accession S0045
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(42),Intron 2(44); standard; MUTATION;
Accession S0046
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(43),Intron 2(45); standard; MUTATION;
Accession S0047
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(44),Intron 2(46); standard; MUTATION;
Accession S0048
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(45),Intron 2(47); standard; MUTATION;
Accession S0049
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(46),Intron 2(48); standard; MUTATION;
Accession S0050
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(47),Intron 2(49); standard; MUTATION;
Accession S0051
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(48),Intron 2(50); standard; MUTATION;
Accession S0052
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(49),Intron 2(51); standard; MUTATION;
Accession S0053
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(50),Intron 2(52); standard; MUTATION;
Accession S0054
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(51),Intron 2(53); standard; MUTATION;
Accession S0055
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(52),Intron 2(54); standard; MUTATION;
Accession S0056
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(53),Intron 2(55); standard; MUTATION;
Accession S0057
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(54),Intron 2(56); standard; MUTATION;
Accession S0058
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(55),Intron 2(57); standard; MUTATION;
Accession S0059
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(56),Intron 2(58); standard; MUTATION;
Accession S0060
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(57),Intron 2(59); standard; MUTATION;
Accession S0061
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(58),Intron 2(60); standard; MUTATION;
Accession S0062
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(59),Intron 2(61); standard; MUTATION;
Accession S0063
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(60),Intron 2(62); standard; MUTATION;
Accession S0064
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(61),Intron 2(63); standard; MUTATION;
Accession S0065
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(62),Intron 2(64); standard; MUTATION;
Accession S0066
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(63),Intron 2(65); standard; MUTATION;
Accession S0067
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(64),Intron 2(66); standard; MUTATION;
Accession S0068
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(65),Intron 2(67); standard; MUTATION;
Accession S0069
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(66),Intron 2(68); standard; MUTATION;
Accession S0070
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(67),Intron 2(69); standard; MUTATION;
Accession S0071
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(68),Intron 2(70); standard; MUTATION;
Accession S0072
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(69),Intron 2(71); standard; MUTATION;
Accession S0073
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(70),Intron 2(72); standard; MUTATION;
Accession S0074
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(71),Intron 2(73); standard; MUTATION;
Accession S0075
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(72),Intron 2(74); standard; MUTATION;
Accession S0076
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(73),Intron 2(75); standard; MUTATION;
Accession S0077
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(74),Intron 2(76); standard; MUTATION;
Accession S0078
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(75),Intron 2(77); standard; MUTATION;
Accession S0079
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(76),Intron 2(78); standard; MUTATION;
Accession S0080
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(77),Intron 2(79); standard; MUTATION;
Accession S0081
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(78),Intron 2(80); standard; MUTATION;
Accession S0082
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(79),Intron 2(81); standard; MUTATION;
Accession S0083
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(80),Intron 2(82); standard; MUTATION;
Accession S0084
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61(81),Intron 2(83); standard; MUTATION;
Accession S0085
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61/Intron 2(1),Intron 2(91); standard; MUTATION;
Accession S0093
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61/Intron 2(2),Intron 2(92); standard; MUTATION;
Accession S0094
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61/Intron 2(3),Intron 2(93); standard; MUTATION;
Accession S0095
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61/Intron 2(4),Intron 2(94); standard; MUTATION;
Accession S0096
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61/Intron 2(5),Intron 2(95); standard; MUTATION;
Accession S0097
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61/Intron 2(6),Intron 2(96); standard; MUTATION;
Accession S0098
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61/Intron 2(7),Intron 2(97); standard; MUTATION;
Accession S0099
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61/Intron 2(8),Intron 2(98); standard; MUTATION;
Accession S0100
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID &S61/Intron 2(9),Intron 2(99); standard; MUTATION;
Accession S0101
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code P1
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent change 2333A>G
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature /note: also silent change 385A>G
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(82),Intron 2(100); standard; MUTATION;
Accession S0102
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 004
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 07-Dec-2004 (Rel. 1, Created)
Date 07-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(83),Intron 2(103); standard; MUTATION;
Accession S0105
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 020
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 07-Dec-2004 (Rel. 1, Created)
Date 07-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(84),Intron 2(104); standard; MUTATION;
Accession S0106
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 022
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(85),Intron 2(105); standard; MUTATION;
Accession S0107
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 023
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(86),Intron 2(106); standard; MUTATION;
Accession S0108
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 028
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(87),Intron 2(107); standard; MUTATION;
Accession S0109
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 048
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(88),Intron 2(108); standard; MUTATION;
Accession S0110
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 050
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(89),Intron 2(109); standard; MUTATION;
Accession S0111
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 053
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(90),Intron 2(110); standard; MUTATION;
Accession S0112
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 058
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(91),Intron 2(111); standard; MUTATION;
Accession S0113
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 060
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(92),Intron 2(112); standard; MUTATION;
Accession S0114
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 075
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(93),Intron 2(113); standard; MUTATION;
Accession S0115
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 076
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(94),Intron 2(114); standard; MUTATION;
Accession S0116
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 077
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(95),Intron 2(115); standard; MUTATION;
Accession S0117
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 078
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(96),Intron 2(116); standard; MUTATION;
Accession S0118
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 056
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(97),Intron 2(117); standard; MUTATION;
Accession S0119
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 059
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(98),Intron 2(119); standard; MUTATION;
Accession S0121
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 079
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(99),Intron 2(120); standard; MUTATION;
Accession S0122
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 081
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(100),Intron 2(126); standard; MUTATION;
Accession S0129
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to an
Description amino acid change
Date 03-Jan-2005 (Rel. 1, Created)
Date 03-Jan-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15342903
RefAuthors Kuijpers, T. W., Nannenberg, E., Alders, M., Bredius, R.,
RefAuthors Hennekam, R. C.
RefTitle Congenital aplastic anemia caused by mutations in the SBDS
RefTitle gene: a rare presentation of shwachman-diamond syndrome.
RefLoc Pediatrics 114:e387-391 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms congenital aplastic anemia, skin lesions and diarrhea
Symptoms followed by severe growth retardation, transient
Symptoms hypoglycemia
Sex XX
Comment Bone marrow transplantation from a matched unrelated donor
Comment was unsuccesful. Patient died on the 69:th day, as a result
Comment of multiple-organ failure.
//
ID &S61(101),Intron 2(130); standard; MUTATION;
Accession S0133
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 4
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 15-Apr-2005 (Rel. 1, Created)
Date 15-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent changes 2273C>T and 2333A>G
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature /note: also silent changes 325C>T and 385A>G
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature /note: also silent change 2333A>G
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature /note: also silent change 385A>G
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms metaphyseal dyschondroplasia of the femoral head, short
Symptoms ribs with broadened anterior ends, anemia, neutropenia,
Symptoms thrombocytopenia
Age 12
Sex XY
Ethnic origin Caucasoid; Italy
//
ID &S61(102),Intron 2(131); standard; MUTATION;
Accession S0134
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 5
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 15-Apr-2005 (Rel. 1, Created)
Date 15-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent changes 2273C>T and 2333A>G
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature /note: also silent changes 325C>T and 385A>G
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature /note: also silent change 2333A>G
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature /note: also silent change 385A>G
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms metaphyseal dyschondroplasia of the femoral head, short
Symptoms ribs with broadened anterior ends, pancreatic
Symptoms insufficiency, anemia, neutropenia, thrombocytopenia
Age 0,6
Sex XX
Ethnic origin Caucasoid; Italy
//
ID &S61/Intron 2(10),Intron 2(133); standard; MUTATION;
Accession S0136
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 7
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 18-Apr-2005 (Rel. 1, Created)
Date 18-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent changes 1818A>G, 1828G>A, 2273C>T and
Feature /note: 2333A>G
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature /note: also silent change 2333A>G
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms short ribs with broadened anterior ends, pancreatic
Symptoms insufficiency, anemia, neutropenia, thrombocytopenia
Age 24
Sex XX
Ethnic origin Caucasoid; Italy
//
ID &S61/Intron 2(11),Intron 2(134); standard; MUTATION;
Accession S0137
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 8
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 18-Apr-2005 (Rel. 1, Created)
Date 18-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent changes 2273C>T and 2333A>G
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature /note: also silent changes 325C>T and 385A>G
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms metaphyseal dyschondroplasia of the femoral head, narrow
Symptoms chest, genu valgum, pancreatic insufficiency, anemia,
Symptoms neutropenia, thrombocytopenia
Age 5
Sex XY
Ethnic origin Caucasoid; Italy
//
ID &S61/Intron 2(12),Intron 2(135); standard; MUTATION;
Accession S0138
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 9
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 18-Apr-2005 (Rel. 1, Created)
Date 18-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent changes 2273C>T and 2333A>G
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature /note: also silent changes 325C>T and 385A>G
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms metaphyseal dyschondroplasia of the femoral head,
Symptoms pancreatic insufficiency, neutropenia
Age 11
Sex XY
Ethnic origin Caucasoid; Italy
//
ID &S61(103),Intron 2(136); standard; MUTATION;
Accession S0139
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 10
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 18-Apr-2005 (Rel. 1, Created)
Date 18-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent changes 2273C>T and 2333A>G
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature /note: also silent changes 325C>T and 385A>G
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms short ribs with broadened anterior ends, neutropenia
Age 16
Sex XY
Ethnic origin Caucasoid; Italy
//
ID &S61(104),Intron 2(139); standard; MUTATION;
Accession S0142
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 13
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 18-Apr-2005 (Rel. 1, Created)
Date 18-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent changes 2273C>T and 2333A>G
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature /note: also silent changes 325C>T and 385A>G
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms metaphyseal dyschondroplasia of the femoral head, short
Symptoms ribs with broadened anterior ends, genu valgum, anemia,
Symptoms neutropenia
Age 12
Sex XY
Ethnic origin Caucasoid; Italy
//
ID &S61(105),Intron 2(140); standard; MUTATION;
Accession S0143
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 14
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 18-Apr-2005 (Rel. 1, Created)
Date 18-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent change 2273C>T
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature /note: also silent change 325C>T
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature /note: also silent change 2333A>G
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature /note: also silent change 385A>G
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms metaphyseal dyschondroplasia of the femoral head,
Symptoms pancreatic insufficiency, neutropenia
Age 10
Sex XX
Ethnic origin Caucasoid; Italy
//
ID &S61(106),Intron 2(142); standard; MUTATION;
Accession S0144
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 15
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 18-Apr-2005 (Rel. 1, Created)
Date 18-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature /note: also silent change 2273C>T
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature /note: also silent change 325C>T
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms metaphyseal dyschondroplasia of the femoral head,
Symptoms pancreatic insufficiency, neutropenia, thrombocytopenia
Age 8
Sex XX
Ethnic origin Caucasoid; Italy
//
ID &S61(107),Intron 2(144); standard; MUTATION;
Accession S0147
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Case 3
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 28-Jun-2005 (Rel. 1, Created)
Date 28-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15942154
RefAuthors Kawakami, T., Mitsui, T., Kanai, M., Shirahata, E., Sendo,
RefAuthors D., Kanno, M., Noro, M., Endoh, M., Hama, A., Tono, C.,
RefAuthors Ito, E., Tsuchiya, S., Igarashi, Y., Abukawa, D.,
RefAuthors Hayasaka, K.
RefTitle Genetic analysis of shwachman-diamond syndrome: phenotypic
RefTitle heterogeneity in patients carrying identical SBDS
RefTitle mutations.
RefLoc Tohoku J Exp Med 206:253-259 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms exocrine pancreatic insufficiency, transitory neutropenia,
Symptoms skeletal abnormalities
Age 1 mo
Sex XY
Ethnic origin Mongoloid; Japan
Comment Deceased
//
ID &S61(108a),Intron 2(145a); standard; MUTATION;
Accession S0148
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Case 4
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 28-Jun-2005 (Rel. 1, Created)
Date 28-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15942154
RefAuthors Kawakami, T., Mitsui, T., Kanai, M., Shirahata, E., Sendo,
RefAuthors D., Kanno, M., Noro, M., Endoh, M., Hama, A., Tono, C.,
RefAuthors Ito, E., Tsuchiya, S., Igarashi, Y., Abukawa, D.,
RefAuthors Hayasaka, K.
RefTitle Genetic analysis of shwachman-diamond syndrome: phenotypic
RefTitle heterogeneity in patients carrying identical SBDS
RefTitle mutations.
RefLoc Tohoku J Exp Med 206:253-259 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms exocrine pancreatic insufficiency
Age 4
Sex XY
Ethnic origin Mongoloid; Japan
Relative SBDSbase; S0149 sister
//
ID &S61(108b),Intron 2(145b); standard; MUTATION;
Accession S0149
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Case 5
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 28-Jun-2005 (Rel. 1, Created)
Date 28-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15942154
RefAuthors Kawakami, T., Mitsui, T., Kanai, M., Shirahata, E., Sendo,
RefAuthors D., Kanno, M., Noro, M., Endoh, M., Hama, A., Tono, C.,
RefAuthors Ito, E., Tsuchiya, S., Igarashi, Y., Abukawa, D.,
RefAuthors Hayasaka, K.
RefTitle Genetic analysis of shwachman-diamond syndrome: phenotypic
RefTitle heterogeneity in patients carrying identical SBDS
RefTitle mutations.
RefLoc Tohoku J Exp Med 206:253-259 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Age 2
Sex XX
Ethnic origin Mongoloid; Japan
Relative SBDSbase; S0148 brother
//
ID &S61(109),Intron 2(146); standard; MUTATION;
Accession S0150
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Case 8
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 28-Jun-2005 (Rel. 1, Created)
Date 28-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15942154
RefAuthors Kawakami, T., Mitsui, T., Kanai, M., Shirahata, E., Sendo,
RefAuthors D., Kanno, M., Noro, M., Endoh, M., Hama, A., Tono, C.,
RefAuthors Ito, E., Tsuchiya, S., Igarashi, Y., Abukawa, D.,
RefAuthors Hayasaka, K.
RefTitle Genetic analysis of shwachman-diamond syndrome: phenotypic
RefTitle heterogeneity in patients carrying identical SBDS
RefTitle mutations.
RefLoc Tohoku J Exp Med 206:253-259 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms exocrine pancreatic insufficiency, persistent neutropenia,
Symptoms pancytopenia, skeletal abnormalities
Age 8
Sex XX
Ethnic origin Mongoloid; Japan
//
ID &S61(110),Intron 2(147); standard; MUTATION;
Accession S0151
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Case 9
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 28-Jun-2005 (Rel. 1, Created)
Date 28-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15942154
RefAuthors Kawakami, T., Mitsui, T., Kanai, M., Shirahata, E., Sendo,
RefAuthors D., Kanno, M., Noro, M., Endoh, M., Hama, A., Tono, C.,
RefAuthors Ito, E., Tsuchiya, S., Igarashi, Y., Abukawa, D.,
RefAuthors Hayasaka, K.
RefTitle Genetic analysis of shwachman-diamond syndrome: phenotypic
RefTitle heterogeneity in patients carrying identical SBDS
RefTitle mutations.
RefLoc Tohoku J Exp Med 206:253-259 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms exocrine pancreatic insufficiency, persistent neutropenia,
Symptoms pancytopenia
Age 5 mo
Sex XY
Ethnic origin Mongoloid; Japan
//
ID &S61(111),Intron 2(148); standard; MUTATION;
Accession S0152
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 1
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(112),Intron 2(150); standard; MUTATION;
Accession S0154
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 5
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(113),Intron 2(151); standard; MUTATION;
Accession S0155
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 7
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(114),Intron 2(153); standard; MUTATION;
Accession S0157
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 9
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(115),Intron 2(154); standard; MUTATION;
Accession S0158
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 12
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(116),Intron 2(155); standard; MUTATION;
Accession S0159
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 13
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(117),Intron 2(156); standard; MUTATION;
Accession S0160
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 14
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(118),Intron 2(157); standard; MUTATION;
Accession S0161
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 15
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(119),Intron 2(158); standard; MUTATION;
Accession S0162
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 16
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(120),Intron 2(160); standard; MUTATION;
Accession S0164
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 18
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(121),Intron 2(162); standard; MUTATION;
Accession S0166
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 22
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(122),Intron 2(163); standard; MUTATION;
Accession S0167
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 1
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 27-Sep-2005 (Rel. 1, Created)
Date 27-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007594
RefAuthors Majeed, F., Jadko, S., Freedman, M. H., Dror, Y.
RefTitle Mutation analysis of SBDS in pediatric acute myeloblastic
RefTitle leukemia.
RefLoc Pediatr Blood Cancer 2005 Jul 8;[epub ahead of print]
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms SDS and acute myeloid leukemia
//
ID &S61(123),K118N(1); standard; MUTATION;
Accession S0179
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.3280A>C, c.354A>C, r.354a>c, p.Lys118Asn
Description Allele 1: a complex mutation in the exon 2 leading to
Description a premature stop codon
Description Allele 2: A point mutation in the exon 3 leading to an
Description amino acid change
Date 04-Oct-2006 (Rel. 1, Created)
Date 04-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 3280
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 538
Feature /codon: aaa -> aac; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 118
Feature /change: K -> N
//
ID &S61(124),Intron 2(179); standard; MUTATION;
Accession S0185
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code UPN 1
Description Allele 1: A complex mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Oct-2006 (Rel. 1, Created)
Date 10-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16382447
RefAuthors Maserati, E., Minelli, A., Pressato, B., Valli, R.,
RefAuthors Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L.,
RefAuthors Poli, F., Panarello, C., Zecca, M., Curto, F. L., Mecucci,
RefAuthors C., Danesino, C., Pasquali, F.
RefTitle Shwachman syndrome as mutator phenotype responsible for
RefTitle myeloid dysplasia/neoplasia through karyotype instability
RefTitle and chromosomes 7 and 20 anomalies.
RefLoc Genes Chromosomes Cancer:375-382 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(125),Intron 2(181); standard; MUTATION;
Accession S0187
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code UPN 4
Description Allele 1: A complex mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Oct-2006 (Rel. 1, Created)
Date 10-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16382447
RefAuthors Maserati, E., Minelli, A., Pressato, B., Valli, R.,
RefAuthors Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L.,
RefAuthors Poli, F., Panarello, C., Zecca, M., Curto, F. L., Mecucci,
RefAuthors C., Danesino, C., Pasquali, F.
RefTitle Shwachman syndrome as mutator phenotype responsible for
RefTitle myeloid dysplasia/neoplasia through karyotype instability
RefTitle and chromosomes 7 and 20 anomalies.
RefLoc Genes Chromosomes Cancer:375-382 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(126),Intron 2(184); standard; MUTATION;
Accession S0190
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code UPN 7
Description Allele 1: A complex mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Oct-2006 (Rel. 1, Created)
Date 10-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16382447
RefAuthors Maserati, E., Minelli, A., Pressato, B., Valli, R.,
RefAuthors Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L.,
RefAuthors Poli, F., Panarello, C., Zecca, M., Curto, F. L., Mecucci,
RefAuthors C., Danesino, C., Pasquali, F.
RefTitle Shwachman syndrome as mutator phenotype responsible for
RefTitle myeloid dysplasia/neoplasia through karyotype instability
RefTitle and chromosomes 7 and 20 anomalies.
RefLoc Genes Chromosomes Cancer:375-382 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61(127),Intron 2(186); standard; MUTATION;
Accession S0192
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code UPN 10
Description Allele 1: A complex mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Oct-2006 (Rel. 1, Created)
Date 10-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16382447
RefAuthors Maserati, E., Minelli, A., Pressato, B., Valli, R.,
RefAuthors Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L.,
RefAuthors Poli, F., Panarello, C., Zecca, M., Curto, F. L., Mecucci,
RefAuthors C., Danesino, C., Pasquali, F.
RefTitle Shwachman syndrome as mutator phenotype responsible for
RefTitle myeloid dysplasia/neoplasia through karyotype instability
RefTitle and chromosomes 7 and 20 anomalies.
RefLoc Genes Chromosomes Cancer:375-382 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID &S61/Intron 2(13),Intron 2(188); standard; MUTATION;
Accession S0194
Systematic name Allele 1: g.2315_2316delinsCT; g.IVS2+2T>C,
Systematic name c.183_184delinsCT; c.258+2T>C,
Systematic name r.183_184delinscu; r.258+2u>c, p.Lys62X;
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code UPN 12
Description Allele 1: a complex mutation in the exon 2
Description and a point mutation in the intron 2
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Oct-2006 (Rel. 1, Created)
Date 10-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16382447
RefAuthors Maserati, E., Minelli, A., Pressato, B., Valli, R.,
RefAuthors Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L.,
RefAuthors Poli, F., Panarello, C., Zecca, M., Curto, F. L., Mecucci,
RefAuthors C., Danesino, C., Pasquali, F.
RefTitle Shwachman syndrome as mutator phenotype responsible for
RefTitle myeloid dysplasia/neoplasia through karyotype instability
RefTitle and chromosomes 7 and 20 anomalies.
RefLoc Genes Chromosomes Cancer:375-382 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: complex
Feature /loc: IDRefSeq: C0076: 367..368
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 5
Feature /rnalink: 3
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Feature aa; 6
Feature /rnalink: 4
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID &S61(129),Intron 2(189); standard; MUTATION;
Accession S0196
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 2
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to an
Description amino acid change
Date 28-May-2008 (Rel. 1, Created)
Date 28-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17400792
RefAuthors Nishimura, G., Nakashima, E., Hirose, Y., Cole, T., Cox,
RefAuthors P., Cohn, D. H., Rimoin, D. L., Lachman, R. S., Miyamoto,
RefAuthors Y., Kerr, B., Unger, S., Ohashi, H., Superti-Furga, A.,
RefAuthors Ikegawa, S.
RefTitle The shwachman-bodian-diamond syndrome gene mutations cause
RefTitle a neonatal form of spondylometaphysial dysplasia (SMD)
RefTitle resembling SMD sedaghatian type.
RefLoc J Med Genet:e73 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms a narrow thorax, rhizomeric shortening of the limbs,
Symptoms thoracic hypoplasia with horizontal short ribs, mild
Symptoms platyspondyly, ragged iliac crests, delayed ossification of
Symptoms the caudal ilia, hypoplastic pubic rami, ragged cupped
Symptoms metaphyses of the long bones, atrial septal defect,
Symptoms hypoplasia of the gallbladder, distened ileal loops filled
Symptoms with meconium, periportal hepatic fibrosis,
Symptoms calcificationsin dilated renal tubules, pulmonary
Symptoms hypoplasia, cystic foci with neighbouring pyknotic
Symptoms chondrocytes
Sex XY
Ethnic origin Caucasoid; Britain
Parents Non-consanguineous
//
ID &S61(130),Intron 2(190); standard; MUTATION;
Accession S0197
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 1
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to an
Description amino acid change
Date 28-May-2008 (Rel. 1, Created)
Date 28-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16867904
RefAuthors Taneichi, H., Kanegane, H., Futatani, T., Otsubo, K.,
RefAuthors Nomura, K., Sato, Y., Hama, A., Kojima, S., Kohdera, U.,
RefAuthors Nakano, T., Hori, H., Kawashima, H., Inoh, Y., Kamizono,
RefAuthors J., Adachi, N., Osugi, Y., Mizuno, H., Hotta, N.,
RefAuthors Yoneyama, H., Nakashima, E., Ikegawa, S., Miyawaki, T.
RefTitle Clinical and genetic analyses of presumed shwachman-
RefTitle diamond syndrome in japan.
RefLoc Int J Hematol:60-62 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms low amylase level, pancytopenia, elevated liver enzyme
Symptoms levels
Age 3 mo
Sex XY
Ethnic origin Mongoloid; Japan
//
ID &S61(131),Intron 2(191); standard; MUTATION;
Accession S0198
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 2
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to an
Description amino acid change
Date 28-May-2008 (Rel. 1, Created)
Date 28-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16867904
RefAuthors Taneichi, H., Kanegane, H., Futatani, T., Otsubo, K.,
RefAuthors Nomura, K., Sato, Y., Hama, A., Kojima, S., Kohdera, U.,
RefAuthors Nakano, T., Hori, H., Kawashima, H., Inoh, Y., Kamizono,
RefAuthors J., Adachi, N., Osugi, Y., Mizuno, H., Hotta, N.,
RefAuthors Yoneyama, H., Nakashima, E., Ikegawa, S., Miyawaki, T.
RefTitle Clinical and genetic analyses of presumed shwachman-
RefTitle diamond syndrome in japan.
RefLoc Int J Hematol:60-62 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms low trypsin and lipase levels, pancytopenia, elevated liver
Symptoms enzyme levels, metaphyseal dysostosis, thoracic dystrophy
Age 8 y
Sex XX
Ethnic origin Mongoloid; Japan
//
ID &S61(132),Intron 2(193); standard; MUTATION;
Accession S0200
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 4
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to an
Description amino acid change
Date 28-May-2008 (Rel. 1, Created)
Date 28-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16867904
RefAuthors Taneichi, H., Kanegane, H., Futatani, T., Otsubo, K.,
RefAuthors Nomura, K., Sato, Y., Hama, A., Kojima, S., Kohdera, U.,
RefAuthors Nakano, T., Hori, H., Kawashima, H., Inoh, Y., Kamizono,
RefAuthors J., Adachi, N., Osugi, Y., Mizuno, H., Hotta, N.,
RefAuthors Yoneyama, H., Nakashima, E., Ikegawa, S., Miyawaki, T.
RefTitle Clinical and genetic analyses of presumed shwachman-
RefTitle diamond syndrome in japan.
RefLoc Int J Hematol:60-62 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms low amylase, trypsin and lipase levels, pancytopenia,
Symptoms elevated liver enzyme levels
Age 1 mo
Sex XY
Ethnic origin Mongoloid; Japan
//
ID &S61(133),Intron 2(194); standard; MUTATION;
Accession S0201
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 5
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to an
Description amino acid change
Date 28-May-2008 (Rel. 1, Created)
Date 28-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16867904
RefAuthors Taneichi, H., Kanegane, H., Futatani, T., Otsubo, K.,
RefAuthors Nomura, K., Sato, Y., Hama, A., Kojima, S., Kohdera, U.,
RefAuthors Nakano, T., Hori, H., Kawashima, H., Inoh, Y., Kamizono,
RefAuthors J., Adachi, N., Osugi, Y., Mizuno, H., Hotta, N.,
RefAuthors Yoneyama, H., Nakashima, E., Ikegawa, S., Miyawaki, T.
RefTitle Clinical and genetic analyses of presumed shwachman-
RefTitle diamond syndrome in japan.
RefLoc Int J Hematol:60-62 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms low amylase and lipase levels, thrombocytopenia
Age 12 y
Sex XY
Ethnic origin Mongoloid; Japan
Comment related to Patient 6
//
ID &S61(134),Intron 2(195); standard; MUTATION;
Accession S0202
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 5
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to an
Description amino acid change
Date 28-May-2008 (Rel. 1, Created)
Date 28-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16867904
RefAuthors Taneichi, H., Kanegane, H., Futatani, T., Otsubo, K.,
RefAuthors Nomura, K., Sato, Y., Hama, A., Kojima, S., Kohdera, U.,
RefAuthors Nakano, T., Hori, H., Kawashima, H., Inoh, Y., Kamizono,
RefAuthors J., Adachi, N., Osugi, Y., Mizuno, H., Hotta, N.,
RefAuthors Yoneyama, H., Nakashima, E., Ikegawa, S., Miyawaki, T.
RefTitle Clinical and genetic analyses of presumed shwachman-
RefTitle diamond syndrome in japan.
RefLoc Int J Hematol:60-62 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms low amylase and lipase levels, pancytopenia, thoracic
Symptoms dystrophy, elevated liver enzyme levels
Age 5 y
Sex XX
Ethnic origin Mongoloid; Japan
Comment related to Patient 5
//
ID &S61(135),Intron 2(196); standard; MUTATION;
Accession S0203
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 7
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to an
Description amino acid change
Date 28-May-2008 (Rel. 1, Created)
Date 28-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16867904
RefAuthors Taneichi, H., Kanegane, H., Futatani, T., Otsubo, K.,
RefAuthors Nomura, K., Sato, Y., Hama, A., Kojima, S., Kohdera, U.,
RefAuthors Nakano, T., Hori, H., Kawashima, H., Inoh, Y., Kamizono,
RefAuthors J., Adachi, N., Osugi, Y., Mizuno, H., Hotta, N.,
RefAuthors Yoneyama, H., Nakashima, E., Ikegawa, S., Miyawaki, T.
RefTitle Clinical and genetic analyses of presumed shwachman-
RefTitle diamond syndrome in japan.
RefLoc Int J Hematol:60-62 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms low amylase, trypsin and lipase levels, pancytopenia,
Symptoms thoracic dystrophy, elevated liver enzyme levels
Age 2 mo
Sex XY
Ethnic origin Mongoloid; Japan
//
ID &S61(136),?; standard; MUTATION;
Accession S0205
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Original code Patient 10
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16867904
RefAuthors Taneichi, H., Kanegane, H., Futatani, T., Otsubo, K.,
RefAuthors Nomura, K., Sato, Y., Hama, A., Kojima, S., Kohdera, U.,
RefAuthors Nakano, T., Hori, H., Kawashima, H., Inoh, Y., Kamizono,
RefAuthors J., Adachi, N., Osugi, Y., Mizuno, H., Hotta, N.,
RefAuthors Yoneyama, H., Nakashima, E., Ikegawa, S., Miyawaki, T.
RefTitle Clinical and genetic analyses of presumed shwachman-
RefTitle diamond syndrome in japan.
RefLoc Int J Hematol:60-62 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
Symptoms low amylase, trypsin and lipase levels, neutropenia
Age 6 mo
Sex XY
Ethnic origin Mongoloid; Japan
//
ID &S61(138),Intron 2(198); standard; MUTATION;
Accession S0206
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 13
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to an
Description amino acid change
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16867904
RefAuthors Taneichi, H., Kanegane, H., Futatani, T., Otsubo, K.,
RefAuthors Nomura, K., Sato, Y., Hama, A., Kojima, S., Kohdera, U.,
RefAuthors Nakano, T., Hori, H., Kawashima, H., Inoh, Y., Kamizono,
RefAuthors J., Adachi, N., Osugi, Y., Mizuno, H., Hotta, N.,
RefAuthors Yoneyama, H., Nakashima, E., Ikegawa, S., Miyawaki, T.
RefTitle Clinical and genetic analyses of presumed shwachman-
RefTitle diamond syndrome in japan.
RefLoc Int J Hematol:60-62 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms low amylase, trypsin and lipase levels, pancytopenia
Age 9 mo
Sex XY
Ethnic origin Mongoloid; Japan
//
ID &S61(139),Intron 2(204); standard; MUTATION;
Accession S0212
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 1
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 29-May-2008 (Rel. 1, Created)
Date 18-Aug-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 18280855
RefAuthors Toiviainen-Salo, S., Raade, M., Durie, P. R., Ip, W.,
RefAuthors Marttinen, E., Savilahti, E., Makitie, O.
RefTitle Magnetic resonance imaging findings of the pancreas in
RefTitle patients with shwachman-diamond syndrome and mutations in
RefTitle the SBDS gene.
RefLoc J Pediatr:434-436 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms pancreatic insufficiency, neutropenia, short stature,
Symptoms metaphyseal dysplasia
Age 2 y
Sex XY
//
ID &S61(140a),Intron 2(207a); standard; MUTATION;
Accession S0215
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 4 (Ref1), Patient 6 (Ref2), Patient 4 (Ref3)
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18280855
RefAuthors Toiviainen-Salo, S., Raade, M., Durie, P. R., Ip, W.,
RefAuthors Marttinen, E., Savilahti, E., Makitie, O.
RefTitle Magnetic resonance imaging findings of the pancreas in
RefTitle patients with shwachman-diamond syndrome and mutations in
RefTitle the SBDS gene.
RefLoc J Pediatr:434-436 (2008)
RefNumber [2]
RefCrossRef PUBMED; 17920346
RefAuthors Toiviainen-Salo, S., Mayranpaa, M. K., Durie, P. R.,
RefAuthors Richards, N., Grynpas, M., Ellis, L., Ikegawa, S., Cole,
RefAuthors W. G., Rommens, J., Marttinen, E., Savilahti, E., Makitie,
RefAuthors O.
RefTitle Shwachman-diamond syndrome is associated with low-turnover
RefTitle osteoporosis.
RefLoc Bone:965-972 (2007)
RefNumber [3]
RefCrossRef PUBMED; 18478597
RefAuthors Toiviainen-Salo, S., Makitie, O., Mannerkoski, M.,
RefAuthors Hamalainen, J., Valanne, L., Autti, T.
RefTitle Shwachman-diamond syndrome is associated with structural
RefTitle brain alterations on MRI.
RefLoc Am J Med Genet A:1558-1564 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Pancreatic insufficiency, neutropenia, recurrent infections
Age 13 mo
Sex XY
Ethnic origin Caucasoid; Finland
Relative SBDSbase; S0216;brother
//
ID &S61(140b),Intron 2(207b),; standard; MUTATION;
Accession S0216
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 2 (Ref1), Patient 1 (Ref2)
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17920346
RefAuthors Toiviainen-Salo, S., Mayranpaa, M. K., Durie, P. R.,
RefAuthors Richards, N., Grynpas, M., Ellis, L., Ikegawa, S., Cole,
RefAuthors W. G., Rommens, J., Marttinen, E., Savilahti, E., Makitie,
RefAuthors O.
RefTitle Shwachman-diamond syndrome is associated with low-turnover
RefTitle osteoporosis.
RefLoc Bone:965-972 (2007)
RefNumber [2]
RefCrossRef PUBMED; 18478597
RefAuthors Toiviainen-Salo, S., Makitie, O., Mannerkoski, M.,
RefAuthors Hamalainen, J., Valanne, L., Autti, T.
RefTitle Shwachman-diamond syndrome is associated with structural
RefTitle brain alterations on MRI.
RefLoc Am J Med Genet A:1558-1564 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms exocrine pancreatic dysfunction, neutropenia
Sex XY
Ethnic origin Caucasoid; Finland
Relative SBDSbase; S0215;brother
//
ID &S61(141),Intron 2(209),; standard; MUTATION;
Accession S0218
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 6 (Ref1), Patient 8 (Ref2), Patient 6 (Ref3)
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18280855
RefAuthors Toiviainen-Salo, S., Raade, M., Durie, P. R., Ip, W.,
RefAuthors Marttinen, E., Savilahti, E., Makitie, O.
RefTitle Magnetic resonance imaging findings of the pancreas in
RefTitle patients with shwachman-diamond syndrome and mutations in
RefTitle the SBDS gene.
RefLoc J Pediatr:434-436 (2008)
RefNumber [2]
RefCrossRef PUBMED; 17920346
RefAuthors Toiviainen-Salo, S., Mayranpaa, M. K., Durie, P. R.,
RefAuthors Richards, N., Grynpas, M., Ellis, L., Ikegawa, S., Cole,
RefAuthors W. G., Rommens, J., Marttinen, E., Savilahti, E., Makitie,
RefAuthors O.
RefTitle Shwachman-diamond syndrome is associated with low-turnover
RefTitle osteoporosis.
RefLoc Bone:965-972 (2007)
RefNumber [3]
RefCrossRef PUBMED; 18478597
RefAuthors Toiviainen-Salo, S., Makitie, O., Mannerkoski, M.,
RefAuthors Hamalainen, J., Valanne, L., Autti, T.
RefTitle Shwachman-diamond syndrome is associated with structural
RefTitle brain alterations on MRI.
RefLoc Am J Med Genet A:1558-1564 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Steatorrhea, neutropenia, failure to thrive
Age 4 mo
Sex XY
Ethnic origin Caucasoid; Finland
//
ID &S61(142),Intron 2(210); standard; MUTATION;
Accession S0219
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 7 (Ref1), Patient 9 (Ref2), Patient 7 (Ref3)
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18280855
RefAuthors Toiviainen-Salo, S., Raade, M., Durie, P. R., Ip, W.,
RefAuthors Marttinen, E., Savilahti, E., Makitie, O.
RefTitle Magnetic resonance imaging findings of the pancreas in
RefTitle patients with shwachman-diamond syndrome and mutations in
RefTitle the SBDS gene.
RefLoc J Pediatr:434-436 (2008)
RefNumber [2]
RefCrossRef PUBMED; 17920346
RefAuthors Toiviainen-Salo, S., Mayranpaa, M. K., Durie, P. R.,
RefAuthors Richards, N., Grynpas, M., Ellis, L., Ikegawa, S., Cole,
RefAuthors W. G., Rommens, J., Marttinen, E., Savilahti, E., Makitie,
RefAuthors O.
RefTitle Shwachman-diamond syndrome is associated with low-turnover
RefTitle osteoporosis.
RefLoc Bone:965-972 (2007)
RefNumber [3]
RefCrossRef PUBMED; 18478597
RefAuthors Toiviainen-Salo, S., Makitie, O., Mannerkoski, M.,
RefAuthors Hamalainen, J., Valanne, L., Autti, T.
RefTitle Shwachman-diamond syndrome is associated with structural
RefTitle brain alterations on MRI.
RefLoc Am J Med Genet A:1558-1564 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Steatorrhea, neutropenia, hepatomegaly, failure to thrive
Age 0.5 y
Sex XX
Ethnic origin Caucasoid; Finland
//
ID &S61(143),Intron 2(211); standard; MUTATION;
Accession S0220
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 8 (Ref1), Patient 10 (Ref2), Patient 8 (Ref3)
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18280855
RefAuthors Toiviainen-Salo, S., Raade, M., Durie, P. R., Ip, W.,
RefAuthors Marttinen, E., Savilahti, E., Makitie, O.
RefTitle Magnetic resonance imaging findings of the pancreas in
RefTitle patients with shwachman-diamond syndrome and mutations in
RefTitle the SBDS gene.
RefLoc J Pediatr:434-436 (2008)
RefNumber [2]
RefCrossRef PUBMED; 17920346
RefAuthors Toiviainen-Salo, S., Mayranpaa, M. K., Durie, P. R.,
RefAuthors Richards, N., Grynpas, M., Ellis, L., Ikegawa, S., Cole,
RefAuthors W. G., Rommens, J., Marttinen, E., Savilahti, E., Makitie,
RefAuthors O.
RefTitle Shwachman-diamond syndrome is associated with low-turnover
RefTitle osteoporosis.
RefLoc Bone:965-972 (2007)
RefNumber [3]
RefCrossRef PUBMED; 18478597
RefAuthors Toiviainen-Salo, S., Makitie, O., Mannerkoski, M.,
RefAuthors Hamalainen, J., Valanne, L., Autti, T.
RefTitle Shwachman-diamond syndrome is associated with structural
RefTitle brain alterations on MRI.
RefLoc Am J Med Genet A:1558-1564 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Steatorrhea, neutropenia
Age 14 mo
Sex XY
Ethnic origin Caucasoid; Finland
//
ID &S61(144),Intron 2(212); standard; MUTATION;
Accession S0221
Systematic name Allele 1: g.2315_2316delinsCT, c.183_184delinsCT,
Systematic name r.183_184delinscu, p.Lys62fsX
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 9 (Ref1), Patient 11 (Ref2), Patient 9 (Ref3)
Description Allele 1: A complex mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18280855
RefAuthors Toiviainen-Salo, S., Raade, M., Durie, P. R., Ip, W.,
RefAuthors Marttinen, E., Savilahti, E., Makitie, O.
RefTitle Magnetic resonance imaging findings of the pancreas in
RefTitle patients with shwachman-diamond syndrome and mutations in
RefTitle the SBDS gene.
RefLoc J Pediatr:434-436 (2008)
RefNumber [2]
RefCrossRef PUBMED; 17920346
RefAuthors Toiviainen-Salo, S., Mayranpaa, M. K., Durie, P. R.,
RefAuthors Richards, N., Grynpas, M., Ellis, L., Ikegawa, S., Cole,
RefAuthors W. G., Rommens, J., Marttinen, E., Savilahti, E., Makitie,
RefAuthors O.
RefTitle Shwachman-diamond syndrome is associated with low-turnover
RefTitle osteoporosis.
RefLoc Bone:965-972 (2007)
RefNumber [3]
RefCrossRef PUBMED; 18478597
RefAuthors Toiviainen-Salo, S., Makitie, O., Mannerkoski, M.,
RefAuthors Hamalainen, J., Valanne, L., Autti, T.
RefTitle Shwachman-diamond syndrome is associated with structural
RefTitle brain alterations on MRI.
RefLoc Am J Med Genet A:1558-1564 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0076: 2315..2316
Feature /change: ta -> ct
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 3
Feature /rnalink: 2
Feature /name: complex
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 61..62
Feature /change: SK -> SX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature /name: complex
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 367..368
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Pancreatic insufficiency, neutropenia, recurrent infections
Age 1 y
Sex XY
Ethnic origin Caucasoid; Finland
//
ID L71P(1),Intron 2(170); standard; MUTATION;
Accession S0175
Systematic name Allele 1: g.2344T>C, c.212T>C, r.212u>c, p.Leu71Pro
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 03-Oct-2006 (Rel. 1, Created)
Date 03-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2344
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 396
Feature /codon: ctc -> ccc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 71
Feature /change: L -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID L71P(2),Intron 2(185); standard; MUTATION;
Accession S0191
Systematic name Allele 1: g.2344T>C, c.212T>C, r.212u>c, p.Leu71Pro
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code UPN 8
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Oct-2006 (Rel. 1, Created)
Date 10-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16382447
RefAuthors Maserati, E., Minelli, A., Pressato, B., Valli, R.,
RefAuthors Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L.,
RefAuthors Poli, F., Panarello, C., Zecca, M., Curto, F. L., Mecucci,
RefAuthors C., Danesino, C., Pasquali, F.
RefTitle Shwachman syndrome as mutator phenotype responsible for
RefTitle myeloid dysplasia/neoplasia through karyotype instability
RefTitle and chromosomes 7 and 20 anomalies.
RefLoc Genes Chromosomes Cancer:375-382 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2344
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 396
Feature /codon: ctc -> ccc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 71
Feature /change: L -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID C84R(1),Intron 2(161); standard; MUTATION;
Accession S0165
Systematic name Allele 1: g.2382T>C, c.250T>C, r.250u>c, p.Cys84Arg
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 20
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2382
Feature /change: t -> c
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 434
Feature /codon: tgt -> cgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84
Feature /change: C -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID I87T(1),Intron 2(124); standard; MUTATION;
Accession S0127
Systematic name Allele 1: g.3186T>C, c.260T>C, r.260u>c, p.Ile87Thr
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 3
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 intron 2 leading to an
Description amino acid change
Date 09-Dec-2004 (Rel. 1, Created)
Date 09-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14984468
RefAuthors Makitie, O., Ellis, L., Durie, P. R., Morrison, J. A.,
RefAuthors Sochett, E. B., Rommens, J. M., Cole, W. G.
RefTitle Skeletal phenotype in patients with shwachman-diamond
RefTitle syndrome and mutations in SBDS.
RefLoc Clin Genet 65:101-112 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 3186
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 444
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 87
Feature /change: I -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID #V93-2(1),Intron 2(171); standard; MUTATION;
Accession S0176
Systematic name Allele 1: g.3205_3210delTCAAGT, c.279_284delTCAAGT,
Systematic name r.279_284delucaagu, p.Val93del
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Description Allele 1: An inframe deletion in the exon 3 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 03-Oct-2006 (Rel. 1, Created)
Date 03-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 3205..3210
Feature /change: -tcaagt
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0076: 463..468
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 93..95
Feature /change: VQV -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID #E99X119(1a),Intron 2(4a); standard; MUTATION;
Accession S0004
Systematic name Allele 1: g.3218_3221delAAAG, c.292_295delAAAG,
Systematic name r.292_295delaaag, p.Glu99fsX21
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 4
Description Allele 1: a frame shift deletion in the exon 3 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14749921
RefAuthors Nakashima, E., Mabuchi, A., Makita, Y., Masuno, M.,
RefAuthors Ohashi, H., Nishimura, G., Ikegawa, S.
RefTitle Novel SBDS mutations caused by gene conversion in
RefTitle japanese patients with shwachman-diamond syndrome.
RefLoc Hum Genet 114:345-348 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 3218..3221
Feature /change: -aaag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 476..479
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 98..99
Feature /change: KE -> KDTHNWSRCL GTLQLLWQTN VX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Ethnic origin Mongoloid; Japan
Relative SBDSbase; S0005 sibling
//
ID #E99X119(1b),Intron 2(4b); standard; MUTATION;
Accession S0005
Systematic name Allele 1: g.3218_3221delAAAG, c.292_295delAAAG,
Systematic name r.292_295delaaag, p.Glu99fsX21
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 5
Description Allele 1: a frame shift deletion in the exon 3 leading to
Description a premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 01-Dec-2004 (Rel. 1, Created)
Date 01-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14749921
RefAuthors Nakashima, E., Mabuchi, A., Makita, Y., Masuno, M.,
RefAuthors Ohashi, H., Nishimura, G., Ikegawa, S.
RefTitle Novel SBDS mutations caused by gene conversion in
RefTitle japanese patients with shwachman-diamond syndrome.
RefLoc Hum Genet 114:345-348 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 3218..3221
Feature /change: -aaag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 476..479
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 98..99
Feature /change: KE -> KDTHNWSRCL GTLQLLWQTN VX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Ethnic origin Mongoloid; Japan
Relative SBDSbase; S0004 sibling
//
ID #E99X119(2),Intron 2(143); standard; MUTATION;
Accession S0145
Systematic name Allele 1: g.3223_3226delAAGA, c.297_300delAAGA,
Systematic name r.297_300delaaga, p.Glu99fsX21
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Case 1
Description Allele 1: a frame shift deletion in the exon 3 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 28-Jun-2005 (Rel. 1, Created)
Date 28-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15942154
RefAuthors Kawakami, T., Mitsui, T., Kanai, M., Shirahata, E., Sendo,
RefAuthors D., Kanno, M., Noro, M., Endoh, M., Hama, A., Tono, C.,
RefAuthors Ito, E., Tsuchiya, S., Igarashi, Y., Abukawa, D.,
RefAuthors Hayasaka, K.
RefTitle Genetic analysis of shwachman-diamond syndrome: phenotypic
RefTitle heterogeneity in patients carrying identical SBDS
RefTitle mutations.
RefLoc Tohoku J Exp Med 206:253-259 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 3218..3221
Feature /change: -aaag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 476..479
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 98..99
Feature /change: KE -> KDTHNWSRCL GTLQLLWQTN VX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms exocrine pancreatic insufficiency, transitory neutropenia,
Symptoms skeletal abnormalities
Age 6 mo
Sex XY
Ethnic origin Mongoloid; Japan
//
ID #E99X119(3),Intron 2(149); standard; MUTATION;
Accession S0153
Systematic name Allele 1: g.3223_3226delAAGA, c.297_300delAAGA,
Systematic name r.297_300delaaga, p.Glu99fsX21
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 4
Description Allele 1: a frame shift deletion in the exon 3 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 3218..3221
Feature /change: -aaag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 476..479
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 98..99
Feature /change: KE -> KDTHNWSRCL GTLQLLWQTN VX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID #E99X119(4),Intron 2(159); standard; MUTATION;
Accession S0163
Systematic name Allele 1: g.3223_3226delAAGA, c.297_300delAAGA,
Systematic name r.297_300delaaga, p.Glu99fsX21
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 17
Description Allele 1: a frame shift deletion in the exon 3 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 3218..3221
Feature /change: -aaag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 476..479
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 98..99
Feature /change: KE -> KDTHNWSRCL GTLQLLWQTN VX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID #E99X119(5),Intron 2(172); standard; MUTATION;
Accession S0177
Systematic name Allele 1: g.3223_3226delAAGA, c.297_300delAAGA,
Systematic name r.297_300delaaga, p.Glu99fsX21
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a frame shift deletion in the exon 3 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 03-Oct-2006 (Rel. 1, Created)
Date 03-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 3218..3221
Feature /change: -aaag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 476..479
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 98..99
Feature /change: KE -> KDTHNWSRCL GTLQLLWQTN VX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID #E99X119(6),Intron 2(173); standard; MUTATION;
Accession S0178
Systematic name Allele 1: g.3223_3226delAAGA, c.297_300delAAGA,
Systematic name r.297_300delaaga, p.Glu99fsX21
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1: a frame shift deletion in the exon 3 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 03-Oct-2006 (Rel. 1, Created)
Date 03-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 3218..3221
Feature /change: -aaag
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 476..479
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 98..99
Feature /change: KE -> KDTHNWSRCL GTLQLLWQTN VX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID #Q103X108(1),Intron 2(128); standard; MUTATION;
Accession S0131
Systematic name Allele 1: g.3233_3234delCA, c.307_308delCA, r.307_308delca,
Systematic name p.Gln103fsX6
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 2
Description Allele 1: a frame shift deletion in the exon 3 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to an
Description amino acid change
Date 15-Apr-2005 (Rel. 1, Created)
Date 15-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0076: 3233..3234
Feature /change: -ca
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink:
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0076: 491..492
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 103
Feature /change: Q -> TGADVX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms metaphyseal dyschondroplasia of the femoral head,
Symptoms neutropenia, thrombocytopenia
Age 7
Sex XX
Ethnic origin Caucasoid; Italy
//
ID N121T(1),R175W(1); standard; MUTATION;
Accession S0169
Systematic name Allele 1: g.3288A>C, c.362A>C, r.362a>c, p.Asn121Thr
Systematic name Allele 2: g.5364C>T, c.523C>T, r.523c>u, p.Arg175Trp
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 4 leading to an
Description amino acid change
Date 14-Jun-2006 (Rel. 1, Created)
Date 04-May-2007 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 17046571
RefAuthors Erdos, M., Alapi, K., Balogh, I., Oroszlan, G., Rakoczi,
RefAuthors E., Sumegi, J., Marodi, L.
RefTitle Severe shwachman-diamond syndrome phenotype caused by
RefTitle compound heterozygous missense mutations in the SBDS gene.
RefLoc Exp Hematol:1517-1521 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 3288
Feature /change: a -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 546
Feature /codon: aat -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 121
Feature /change: N -> T
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 5364
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 707
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 175
Feature /change: R -> W
Symptoms Recurrent respiratory tract infections, chronic diarrhea,
Symptoms failure to thrive, pancytopenia, thrombocytopenia, anemia,
Symptoms pneumonia
Age 5 mo
Sex XY
Ethnic origin Caucasoid; Hungary
Parents Non-consanguineous
//
ID S143L/K148R(1),Intron 2(174); standard; MUTATION;
Accession S0180
Systematic name Allele 1: g.[3354C>T; 3369A>G], c.[428C>T; 443A>G],
Systematic name r.[428c>u; 443a>g], p.[Ser143Leu; Lys148Arg]
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Description Allele 1: 2 point mutations in the exon 3 leading to
Description amino acid changes
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 04-Oct-2006 (Rel. 1, Created)
Date 04-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0076: 3354
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0076: 3369
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 612
Feature /codon: tcg -> ttg; 2
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 627
Feature /codon: aag -> agg; 2
Feature aa; 5
Feature /rnalink: 3
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 143
Feature /change: S -> L
Feature aa; 6
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 148
Feature /change: K -> R
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID S143W(1),Intron 2(192); standard; MUTATION;
Accession S0199
Systematic name Allele 1: g.3354C>G, c.428C>G, r.428c>g, p.Ser143Trp
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 3
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 intron 2 leading to an
Description amino acid change
Date 28-May-2008 (Rel. 1, Created)
Date 28-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16867904
RefAuthors Taneichi, H., Kanegane, H., Futatani, T., Otsubo, K.,
RefAuthors Nomura, K., Sato, Y., Hama, A., Kojima, S., Kohdera, U.,
RefAuthors Nakano, T., Hori, H., Kawashima, H., Inoh, Y., Kamizono,
RefAuthors J., Adachi, N., Osugi, Y., Mizuno, H., Hotta, N.,
RefAuthors Yoneyama, H., Nakashima, E., Ikegawa, S., Miyawaki, T.
RefTitle Clinical and genetic analyses of presumed shwachman-
RefTitle diamond syndrome in japan.
RefLoc Int J Hematol:60-62 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 3354
Feature /change: c -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076; GI:27802128; SBDSC: 612
Feature /codon: tcg -> tgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 143
Feature /change: S -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms low amylase, trypsin and lipase levels, pancytopenia
Age 5 mo
Sex XX
Ethnic origin Mongoloid; Japan
//
ID Q153R(1),Intron 2(175); standard; MUTATION;
Accession S0181
Systematic name Allele 1: g.3384A>G, c.458A>G, r.458a>g, p.Gln153Arg
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
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 intron 2 leading to
Description aberrant splicing
Date 04-Oct-2006 (Rel. 1, Created)
Date 04-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 3384
Feature /change: a -> g
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 642
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 153
Feature /change: Q -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID R169C(1),Intron 2(102); standard; MUTATION;
Accession S0104
Systematic name Allele 1: g.5346C>T, c.505C>T, r.505c>u, p.Arg169Cys
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 019
Description Allele 1: a point mutation in the exon 4 leading to an
Description amino acid change
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 07-Dec-2004 (Rel. 1, Created)
Date 07-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 5346
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 689
Feature /codon: cgt -> tgt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 169
Feature /change: R -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID R169L(1),Intron 2(177); standard; MUTATION;
Accession S0183
Systematic name Allele 1: g.5347G>T, c.506G>T, r.506g>u, p.Arg169Leu
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 05-Oct-2006 (Rel. 1, Created)
Date 05-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 5347
Feature /change: g -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0076: 690
Feature /codon: cgt -> ctt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 169
Feature /change: R -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID R218X(1),Intron 2(101); standard; MUTATION;
Accession S0103
Systematic name Allele 1: g.8130C>T, c.652C>T, r.652c>u, p.Arg218X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 006
Description Allele 1: a point mutation in the exon 5 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 07-Dec-2004 (Rel. 1, Created)
Date 07-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 8130
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: C0076: 836
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 218
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XX
//
ID R218X(2),Intron 2(132); standard; MUTATION;
Accession S0135
Systematic name Allele 1: g.8130C>T, c.652C>T, r.652c>u, p.Arg218X
Systematic name Allele 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 6
Description Allele 1: a point mutation in the exon 5 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 15-Apr-2005 (Rel. 1, Created)
Date 15-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 8130
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: C0076: 836
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 218
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms metaphyseal dyschondroplasia of the femoral head,
Symptoms neutropenia
Age 8
Sex XX
Ethnic origin Caucasoid; Italy
//
ID Intron 2(84),Intron 2(84); standard; MUTATION;
Accession S0086
Systematic name Allele 1 and 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1 and 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 02-Dec-2004 (Rel. 1, Created)
Date 02-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID Intron 2(85),Intron 2(85); standard; MUTATION;
Accession S0087
Systematic name Allele 1 and 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1 and 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 02-Dec-2004 (Rel. 1, Created)
Date 02-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID Intron 2(86),Intron 2(86); standard; MUTATION;
Accession S0088
Systematic name Allele 1 and 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1 and 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 02-Dec-2004 (Rel. 1, Created)
Date 02-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID Intron 2(87),Intron 2(87); standard; MUTATION;
Accession S0089
Systematic name Allele 1 and 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1 and 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 02-Dec-2004 (Rel. 1, Created)
Date 02-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID Intron 2(88),Intron 2(88); standard; MUTATION;
Accession S0090
Systematic name Allele 1 and 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1 and 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 02-Dec-2004 (Rel. 1, Created)
Date 02-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID Intron 2(89),Intron 2(89); standard; MUTATION;
Accession S0091
Systematic name Allele 1 and 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1 and 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 02-Dec-2004 (Rel. 1, Created)
Date 02-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID Intron 2(90),Intron 2(90); standard; MUTATION;
Accession S0092
Systematic name Allele 1 and 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Description Allele 1 and 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 02-Dec-2004 (Rel. 1, Created)
Date 02-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12496757
RefAuthors Boocock, G. R., Morrison, J. A., Popovic, M., Richards,
RefAuthors N., Ellis, L., Durie, P. R., Rommens, J. M.
RefTitle Mutations in SBDS are associated with shwachman-diamond
RefTitle syndrome.
RefLoc Nat Genet 33:97-101 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
//
ID Intron 2(118),Intron 2(118); standard; MUTATION;
Accession S0120
Systematic name Allele 1 and 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code 082
Description Allele 1 and 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 08-Dec-2004 (Rel. 1, Created)
Date 08-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15284109
RefAuthors Woloszynek, J. R., Rothbaum, R. J., Rawls, A. S., Minx, P.
RefAuthors J., Wilson, R. K., Mason, P. J., Bessler, M., Link, D. C.
RefTitle Mutations of the SBDS gene are present in most patients
RefTitle with shwachman-diamond syndrome.
RefLoc Blood 104:3588-3590 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID Intron 2(125),?; standard; MUTATION;
Accession S0128
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 18
Description Allele 1: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 09-Dec-2004 (Rel. 1, Created)
Date 09-Dec-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14984468
RefAuthors Makitie, O., Ellis, L., Durie, P. R., Morrison, J. A.,
RefAuthors Sochett, E. B., Rommens, J. M., Cole, W. G.
RefTitle Skeletal phenotype in patients with shwachman-diamond
RefTitle syndrome and mutations in SBDS.
RefLoc Clin Genet 65:101-112 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
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
Sex XY
//
ID Intron 2(127),Intron 2(127); standard; MUTATION;
Accession S0130
Systematic name Allele 1 and 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 1
Description Allele 1 and 2: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 15-Apr-2005 (Rel. 1, Created)
Date 15-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms metaphyseal dyschondroplasia of the femoral head, genu
Symptoms valgum, pancreatic insufficiency, neutropenia
Age 4
Sex XY
Ethnic origin Caucasoid; Italy
//
ID Intron 2(138),Intron 4(1); standard; MUTATION;
Accession S0141
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Systematic name Allele 2: g.IVS4+1G>C, c.624+1G>C, r.624+1g>c,
Original code Patient 12
Description Allele 1: a point mutation in the intron 2 leading to
Description aberrant splicing
Description Allele 2: a point mutation in the intron 4 leading to
Description aberrant splicing
Date 18-Apr-2005 (Rel. 1, Created)
Date 18-Apr-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15776428
RefAuthors Nicolis, E., Bonizzato, A., Assael, B. M., Cipolli, M.
RefTitle Identification of novel mutations in patients with
RefTitle shwachman-diamond syndrome.
RefLoc Hum Mutat 25:410 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 5466
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms metaphyseal dyschondroplasia of the femoral head,
Symptoms pancreatic insufficiency, neutropenia
Age 14
Sex XY
Ethnic origin Caucasoid; Italy
//
ID Intron 2(143),?; standard; MUTATION;
Accession S0146
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Case 2
Description Allele 1: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 28-Jun-2005 (Rel. 1, Created)
Date 28-Jun-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15942154
RefAuthors Kawakami, T., Mitsui, T., Kanai, M., Shirahata, E., Sendo,
RefAuthors D., Kanno, M., Noro, M., Endoh, M., Hama, A., Tono, C.,
RefAuthors Ito, E., Tsuchiya, S., Igarashi, Y., Abukawa, D.,
RefAuthors Hayasaka, K.
RefTitle Genetic analysis of shwachman-diamond syndrome: phenotypic
RefTitle heterogeneity in patients carrying identical SBDS
RefTitle mutations.
RefLoc Tohoku J Exp Med 206:253-259 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
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
Symptoms exocrine pancreatic insufficiency, persistent neutropenia,
Symptoms pancytopenia, skeletal abnormalities
Age 2
Sex XY
Ethnic origin Mongoloid; Japan
Comment Deceased
//
ID Intron 2(152),?; standard; MUTATION;
Accession S0156
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 8
Description Allele 1: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 26-Sep-2005 (Rel. 1, Created)
Date 26-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15769891
RefAuthors Kuijpers, T. W., Alders, M., Tool, A. T., Mellink, C.,
RefAuthors Roos, D., Hennekam, R. C.
RefTitle Hematologic abnormalities in shwachman diamond syndrome:
RefTitle lack of genotype-phenotype relationship.
RefLoc Blood 106:356-361 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
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
Sex XY
//
ID Intron 2(164),Intron 2(164); standard; MUTATION;
Accession S0168
Systematic name Allele 1 and 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c,
Original code Patient 2
Description Allele 1: a point mutation in the intron 2 leading to
Description aberrant splicing
Date 27-Sep-2005 (Rel. 1, Created)
Date 27-Sep-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16007594
RefAuthors Majeed, F., Jadko, S., Freedman, M. H., Dror, Y.
RefTitle Mutation analysis of SBDS in pediatric acute myeloblastic
RefTitle leukemia.
RefLoc Pediatr Blood Cancer 2005 Jul 8;[epub ahead of print]
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Symptoms SDS and acute myeloid leukemia
//
ID Intron 2(176),Intron 3(1); standard; MUTATION;
Accession S0182
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Systematic name Allele 2: g.IVS3-1G>A, c.460-1G>A, r.
Description Allele 1: A point mutation in the intron 2 leading to
Description aberrant splicing
Description Allele 2: A point mutation in the intron 3 leading to
Description aberrant splicing
Date 05-Oct-2006 (Rel. 1, Created)
Date 05-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 5300
Feature /change: g -> a
Feature /genomic_region: intron; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Intron 2(178),Intron 4(2); standard; MUTATION;
Accession S0184
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Systematic name Allele 2: g.IVS4+1G>C, c.624+1G>C, r.624+1g>c
Description Allele 1: A point mutation in the intron 2 leading to
Description aberrant splicing
Description Allele 2: A point mutation in the intron 4 leading to
Description aberrant splicing
Date 05-Oct-2006 (Rel. 1, Created)
Date 05-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15701631
RefAuthors Shammas, C., Menne, T. F., Hilcenko, C., Michell, S. R.,
RefAuthors Goyenechea, B., Boocock, G. R., Durie, P. R., Rommens, J.
RefAuthors M., Warren, A. J.
RefTitle Structural and mutational analysis of the SBDS protein
RefTitle family. insight into the leukemia-associated shwachman-
RefTitle diamond syndrome.
RefLoc J Biol Chem:19221-19229 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 5466
Feature /change: g -> c
Feature /genomic_region: intron; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Intron 2(180),Intron 2(180); standard; MUTATION;
Accession S0186
Systematic name Allele 1 and 2: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code UPN 2
Description Allele 1 and 2: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Oct-2006 (Rel. 1, Created)
Date 10-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16382447
RefAuthors Maserati, E., Minelli, A., Pressato, B., Valli, R.,
RefAuthors Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L.,
RefAuthors Poli, F., Panarello, C., Zecca, M., Curto, F. L., Mecucci,
RefAuthors C., Danesino, C., Pasquali, F.
RefTitle Shwachman syndrome as mutator phenotype responsible for
RefTitle myeloid dysplasia/neoplasia through karyotype instability
RefTitle and chromosomes 7 and 20 anomalies.
RefLoc Genes Chromosomes Cancer:375-382 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
Sex XY
//
ID Intron 2(182),?; standard; MUTATION;
Accession S0188
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code UPN 5
Description Allele 1: A point mutation in the intron 2 leading to
Description aberrant splicing
Date 10-Oct-2006 (Rel. 1, Created)
Date 10-Oct-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16382447
RefAuthors Maserati, E., Minelli, A., Pressato, B., Valli, R.,
RefAuthors Crescenzi, B., Stefanelli, M., Menna, G., Sainati, L.,
RefAuthors Poli, F., Panarello, C., Zecca, M., Curto, F. L., Mecucci,
RefAuthors C., Danesino, C., Pasquali, F.
RefTitle Shwachman syndrome as mutator phenotype responsible for
RefTitle myeloid dysplasia/neoplasia through karyotype instability
RefTitle and chromosomes 7 and 20 anomalies.
RefLoc Genes Chromosomes Cancer:375-382 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: IDRefSeq: C0076: 435..442
Feature /change: -gtaagcag
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9Y3A5; SBDS_HUMAN: 84..86
Feature /change: CKQ -> YFDX
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
Sex XX
//
ID Intron 2(197),Intron 2(197); standard; MUTATION;
Accession S0204
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Systematic name Allele 2: g.IVS2-1G>A, c.259-1G>A, r.
Original code Patient 8
Description Allele 1: A point mutation in the intron 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to an
Description amino acid change
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16867904
RefAuthors Taneichi, H., Kanegane, H., Futatani, T., Otsubo, K.,
RefAuthors Nomura, K., Sato, Y., Hama, A., Kojima, S., Kohdera, U.,
RefAuthors Nakano, T., Hori, H., Kawashima, H., Inoh, Y., Kamizono,
RefAuthors J., Adachi, N., Osugi, Y., Mizuno, H., Hotta, N.,
RefAuthors Yoneyama, H., Nakashima, E., Ikegawa, S., Miyawaki, T.
RefTitle Clinical and genetic analyses of presumed shwachman-
RefTitle diamond syndrome in japan.
RefLoc Int J Hematol:60-62 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
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: point
Feature /loc: IDRefSeq: D0076: 3184
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms low amylase and trypsin levels, pancytopenia, elevated
Symptoms liver enzyme levels
Age 8 y
Sex XY
Ethnic origin Mongoloid; Japan
//
ID Intron 2(199),?; standard; MUTATION;
Accession S0207
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient A
Description Allele 1: A point mutation in the intron 2 leading to an
Description amino acid change
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17478638
RefAuthors Calado, R. T., Graf, S. A., Wilkerson, K. L., Kajigaya,
RefAuthors S., Ancliff, P. J., Dror, Y., Chanock, S. J., Lansdorp, P.
RefAuthors M., Young, N. S.
RefTitle Mutations in the SBDS gene in acquired aplastic anemia.
RefLoc Blood:1141-1146 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms diagnosed with acquired aplastic anemia
Sex XY
Ethnic origin Hispanic
Comment mother with mild anemia
//
ID Intron 2(200),?; standard; MUTATION;
Accession S0208
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient B
Description Allele 1: A point mutation in the intron 2 leading to an
Description amino acid change
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17478638
RefAuthors Calado, R. T., Graf, S. A., Wilkerson, K. L., Kajigaya,
RefAuthors S., Ancliff, P. J., Dror, Y., Chanock, S. J., Lansdorp, P.
RefAuthors M., Young, N. S.
RefTitle Mutations in the SBDS gene in acquired aplastic anemia.
RefLoc Blood:1141-1146 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms diagnosed with acquired aplastic anemia
Sex XX
//
ID Intron 2(201),?; standard; MUTATION;
Accession S0209
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient C
Description Allele 1: A point mutation in the intron 2 leading to an
Description amino acid change
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17478638
RefAuthors Calado, R. T., Graf, S. A., Wilkerson, K. L., Kajigaya,
RefAuthors S., Ancliff, P. J., Dror, Y., Chanock, S. J., Lansdorp, P.
RefAuthors M., Young, N. S.
RefTitle Mutations in the SBDS gene in acquired aplastic anemia.
RefLoc Blood:1141-1146 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms diagnosed with acquired aplastic anemia
Sex XY
Ethnic origin Negroid
Comment mother with mild anemia
//
ID Intron 2(202),?; standard; MUTATION;
Accession S0210
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient D
Description Allele 1: A point mutation in the intron 2 leading to an
Description amino acid change
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17478638
RefAuthors Calado, R. T., Graf, S. A., Wilkerson, K. L., Kajigaya,
RefAuthors S., Ancliff, P. J., Dror, Y., Chanock, S. J., Lansdorp, P.
RefAuthors M., Young, N. S.
RefTitle Mutations in the SBDS gene in acquired aplastic anemia.
RefLoc Blood:1141-1146 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms diagnosed with acquired aplastic anemia
Sex XY
Ethnic origin Negroid
Comment mother with mild anemia
//
ID Intron 2(203),=; standard; MUTATION;
Accession S0211
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient
Description Allele 1: A point mutation in the intron 2 leading to an
Description amino acid change
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18190602
RefAuthors Khan, S., Hinks, J., Shorto, J., Schwarz, M. J., Sewell,
RefAuthors W. A.
RefTitle Some cases of common variable immunodeficiency may be due
RefTitle to a mutation in the SBDS gene of shwachman-diamond
RefTitle syndrome.
RefLoc Clin Exp Immunol:448-454 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms diagnosed with common variable immunodeficiency (CVID);
Symptoms recurrent Haemophilus influenzae pneumonia,
Symptoms panhypogammaglobulinaemia, lymphopenia, inflammatory nasal
Symptoms polyps, arthritis, anaemia, eosinophilia, abnormal liver
Symptoms function, bronchiectasis, fused ectopic kidneys,
Symptoms hypocalcaemic tetany, hypoalbuminaemia, lymphoid nodular
Symptoms hyperplasia, abnormal levels of faecal immunoelastase
Age 49 y
Sex XY
//
ID Intron 2(205),?; standard; MUTATION;
Accession S0213
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 2 (Ref1), Patient 1 (Ref2)
Description Allele 1: A point mutation in the intron 2 leading to an
Description amino acid change
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18280855
RefAuthors Toiviainen-Salo, S., Raade, M., Durie, P. R., Ip, W.,
RefAuthors Marttinen, E., Savilahti, E., Makitie, O.
RefTitle Magnetic resonance imaging findings of the pancreas in
RefTitle patients with shwachman-diamond syndrome and mutations in
RefTitle the SBDS gene.
RefLoc J Pediatr:434-436 (2008)
RefNumber [2]
RefCrossRef PUBMED; 17920346
RefAuthors Toiviainen-Salo, S., Mayranpaa, M. K., Durie, P. R.,
RefAuthors Richards, N., Grynpas, M., Ellis, L., Ikegawa, S., Cole,
RefAuthors W. G., Rommens, J., Marttinen, E., Savilahti, E., Makitie,
RefAuthors O.
RefTitle Shwachman-diamond syndrome is associated with low-turnover
RefTitle osteoporosis.
RefLoc Bone:965-972 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms pancreatic insufficiency, neutropenia, short stature,
Symptoms recurrent infections
Age 1.5 y
Sex XY
Ethnic origin Caucasoid; Finland
//
ID Intron 2(206),Intron 2(206); standard; MUTATION;
Accession S0214
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Systematic name Allele 2: g.IVS2-124G>A, c.259-124G>A, r.259-122_259-1ins
Original code Patient 3 (Ref1), Patient 5 (Ref2), Patient 3 (Ref3)
Description Allele 1: A point mutation in the intron 2 leading to an
Description amino acid change
Description Allele 2: A point mutation in the intron 2 leading to an
Description amino acid change
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18280855
RefAuthors Toiviainen-Salo, S., Raade, M., Durie, P. R., Ip, W.,
RefAuthors Marttinen, E., Savilahti, E., Makitie, O.
RefTitle Magnetic resonance imaging findings of the pancreas in
RefTitle patients with shwachman-diamond syndrome and mutations in
RefTitle the SBDS gene.
RefLoc J Pediatr:434-436 (2008)
RefNumber [2]
RefCrossRef PUBMED; 17920346
RefAuthors Toiviainen-Salo, S., Mayranpaa, M. K., Durie, P. R.,
RefAuthors Richards, N., Grynpas, M., Ellis, L., Ikegawa, S., Cole,
RefAuthors W. G., Rommens, J., Marttinen, E., Savilahti, E., Makitie,
RefAuthors O.
RefTitle Shwachman-diamond syndrome is associated with low-turnover
RefTitle osteoporosis.
RefLoc Bone:965-972 (2007)
RefNumber [3]
RefCrossRef PUBMED; 18478597
RefAuthors Toiviainen-Salo, S., Makitie, O., Mannerkoski, M.,
RefAuthors Hamalainen, J., Valanne, L., Autti, T.
RefTitle Shwachman-diamond syndrome is associated with structural
RefTitle brain alterations on MRI.
RefLoc Am J Med Genet A:1558-1564 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
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: point
Feature /loc: IDRefSeq: D0076: 3061
Feature /change: g -> a
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -124
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms pancreatic insufficiency, neutropenia, metaphyseal
Symptoms dysplasia
Age 14.5 y
Sex XY
Ethnic origin Caucasoid; Finland
//
ID Intron 2(208),?; standard; MUTATION;
Accession S0217
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Original code Patient 5 (Ref1), Patient 7 (Ref2), Patient 5 (Ref3)
Description Allele 1: A point mutation in the intron 2 leading to an
Description amino acid change
Description Allele 2: A complex rearrangement
Date 29-May-2008 (Rel. 1, Created)
Date 29-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18280855
RefAuthors Toiviainen-Salo, S., Raade, M., Durie, P. R., Ip, W.,
RefAuthors Marttinen, E., Savilahti, E., Makitie, O.
RefTitle Magnetic resonance imaging findings of the pancreas in
RefTitle patients with shwachman-diamond syndrome and mutations in
RefTitle the SBDS gene.
RefLoc J Pediatr:434-436 (2008)
RefNumber [2]
RefCrossRef PUBMED; 17920346
RefAuthors Toiviainen-Salo, S., Mayranpaa, M. K., Durie, P. R.,
RefAuthors Richards, N., Grynpas, M., Ellis, L., Ikegawa, S., Cole,
RefAuthors W. G., Rommens, J., Marttinen, E., Savilahti, E., Makitie,
RefAuthors O.
RefTitle Shwachman-diamond syndrome is associated with low-turnover
RefTitle osteoporosis.
RefLoc Bone:965-972 (2007)
RefNumber [3]
RefCrossRef PUBMED; 18478597
RefAuthors Toiviainen-Salo, S., Makitie, O., Mannerkoski, M.,
RefAuthors Hamalainen, J., Valanne, L., Autti, T.
RefTitle Shwachman-diamond syndrome is associated with structural
RefTitle brain alterations on MRI.
RefLoc Am J Med Genet A:1558-1564 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
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: complex
Feature /note: complex rearrangement
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: complex
Feature aa; 6
Feature /rnalink: 5
Feature /name: complex
Symptoms Steatorrhea, neutropenia, metaphyseal dysplasia,
Symptoms osteoporosis
Age 1.5 y
Sex XY
Ethnic origin Caucasoid; Finland
//
ID Intron 2(213),Intron 2(213); standard; MUTATION;
Accession S0222
Systematic name Allele 1: g.IVS2+2T>C, c.258+2T>C, r.258+2u>c
Systematic name Allele 2: g.IVS2+374_IVS3+250del, c.258+374_459+250del,
Description Allele 1: A point mutation in the intron 2 leading to an
Description amino acid change
Description Allele 2: A deletion of 872 bp including the exon 3 and
Description parts of the flanking introns 2 and 3
Date 06-Jun-2008 (Rel. 1, Created)
Date 06-Jun-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17376717
RefAuthors Costa, E., Duque, F., Oliveira, J., Garcia, P., Gonxalves,
RefAuthors I., Diogo, L., Santos, R.
RefTitle Identification of a novel aluSx-mediated deletion of exon
RefTitle 3 in the SBDS gene in a patient with shwachman-diamond
RefTitle syndrome.
RefLoc Blood Cells Mol Dis:96-101 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0076: 2392
Feature /change: t -> c
Feature /genomic_region: intron; 2
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: deletion
Feature /loc: IDRefSeq: D0076: 2764..3635
Feature /change: -gcacttc actgcactca gctcactgca acctctgcct
Feature /change: cctggattca agcgattctc ttgcctcagc
Feature /change: ttccagggta gctgggatta caggtgccca
Feature /change: ccaccctgcc tggctaattt
Feature /change: ttggattttt agtagagatg gggtttcacc atgttggcca
Feature /change: ggttggtctc aaactcctga
Feature /change: ccttgggtga tatgcccgcc ttagccaccc aaagtgctgg
Feature /change: gattacagat gtgagccact
Feature /change: gagcccagcc aaaagattct tgcatctttt gggcaaagct
Feature /change: caaaccatta cttacatatt
Feature /change: gatagctgga gaggatgaaa tttaattttc tctccatcca
Feature /change: gttactcatt ttttatggtt
Feature /change: agttaataaa tagtgtgtga tagagaaaga tagtgatttc
Feature /change: ttaaatgtgt tggcattttt
Feature /change: ttagattttg actaaaggag aagttcaagt atcagataaa
Feature /change: gaaagacaca cacaactgga
Feature /change: gcagatgttt agggacattg caactattgt ggcagacaaa
Feature /change: tgtgtgaatc ctgaaacaaa
Feature /change: gagaccatac accgtgatcc ttattgagag agccatgaag
Feature /change: gacatccact attcggtgaa
Feature /change: aaccaacaag agtacaaaac agcaggtgag tggtttctca
Feature /change: tgtcatcaaa atatagccat
Feature /change: ggaaatcagt tttctctgaa gaaatcatta aaataatggg
Feature /change: tctggggcca ggcacaatgg
Feature /change: ttcatgcctg taatcctagc actttgggag ccaagatggg
Feature /change: aggattgctt gaggcctgga
Feature /change: aacagcctgg gaaacatagg gacgccccat ctctaaattt
Feature /change: tttttttttt tttttgagac
Feature /change: agagtcttac tctattgccc aggctggagt gcagt
Feature /genomic_region: intron; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +374
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms failure to thrive, severe anemia, extensive eczema, liver
Symptoms enlargement with hepatitis, cyclic neutropenia, bone marrow
Symptoms dysfunction, pancreatic insufficiency, metaphyseal
Symptoms chondrodysplasia
Age 3 mo
Sex XX
Ethnic origin Caucasoid
Parents Non-consanguineous
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