Dtabase AK2base
Version 1.0
File ak2pub.html
Date 08-Apr-2013
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics, University of Tampere,
Address FIN-33014 Tampere, Finland
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/AK2base/
Gene AK2
Disease Reticular dysgenesis
OMIM 103020
Sequence IdRefSeq:D0130; IdRefSeq:C0130;
Sequence UniProt:Q8TCY3
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Funding Finnish Academy
Comments sequence entry reference in every entry
//
ID M1V(1),#C40X44(1); standard; MUTATION;
Accession A0007
Systematic name Allele 1: g.1064A>G, c.1A>G, r.1a>g, p.Met1Val
Systematic name Allele 2: g.13349delT, c.118delT, r.118delu, p.Cys40fsX5
Original code F2P1
Description Allele 1: A point mutation in the exon 1 leading to an
Description amino acid change
Description Allele 2: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19043417
RefAuthors Pannicke, U., Honig, M., Hess, I., Friesen, C., Holzmann,
RefAuthors K., Rump, E. M., Barth, T. F., Rojewski, M. T., Schulz,
RefAuthors A., Boehm, T., Friedrich, W., Schwarz, K.
RefTitle Reticular dysgenesis (aleukocytosis) is caused by
RefTitle mutations in the gene encoding mitochondrial adenylate
RefTitle kinase 2.
RefLoc Nat Genet:101-105 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0130: 1064
Feature /change: a -> g
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0130; GI:26665889; : 43
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 1
Feature /change: M -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IdRefSeq: D0130: 13349
Feature /change: -t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IdRefSeq: C0130; GI:26665889; : 160
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 40
Feature /change: C -> VSAIX
Symptoms Leukopenia; Ascites; Cholestatic liver disease;
Sex XY
Ethnic origin Germany
IgA 0.7 g/l
IgM 0.4 g/l
//
ID E9X(1),E9X(1); standard; MUTATION;
Accession A0006
Systematic name Allele 1 and 2: g.1088G>T, c.25G>T, r.25g>u, p.Glu9X
Original code P7
Description Allele 1 and 2: A point mutation in the exon 1 leading to a
Description premature stop codon
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19043416
RefAuthors Lagresle-Peyrou, C., Six, E. M., Picard, C., Rieux-Laucat,
RefAuthors F., Michel, V., Ditadi, A., Demerens-de Chappedelaine, C.,
RefAuthors Morillon, E., Valensi, F., Simon-Stoos, K. L., Mullikin,
RefAuthors J. C., Noroski, L. M., Besse, C., Wulffraat, N. M.,
RefAuthors Ferster, A., Abecasis, M. M., Calvo, F., Petit, C.,
RefAuthors Candotti, F., Abel, L., Fischer, A., Cavazzana-Calvo, M.
RefTitle Human adenylate kinase 2 deficiency causes a profound
RefTitle hematopoietic defect associated with sensorineural
RefTitle deafness.
RefLoc Nat Genet:106-111 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0130: 1088
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IdRefSeq: C0130; GI:26665889; : 67
Feature /codon: gaa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 9
Feature /change: E -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0130: 1088
Feature /change: g -> t
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IdRefSeq: C0130; GI:26665889; : 67
Feature /codon: gaa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 9
Feature /change: E -> X
Symptoms Deafness;
Ethnic origin Central America
Parents Non-consanguineous
//
ID R103W(1),R103W(1); standard; MUTATION;
Accession A0005
Systematic name Allele 1 and 2: g.16276C>T, c.307C>T, r.307c>u, p.Arg103Trp
Original code P5
Description Allele 1 and 2: A point mutation in the exon 3 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19043416
RefAuthors Lagresle-Peyrou, C., Six, E. M., Picard, C., Rieux-Laucat,
RefAuthors F., Michel, V., Ditadi, A., Demerens-de Chappedelaine, C.,
RefAuthors Morillon, E., Valensi, F., Simon-Stoos, K. L., Mullikin,
RefAuthors J. C., Noroski, L. M., Besse, C., Wulffraat, N. M.,
RefAuthors Ferster, A., Abecasis, M. M., Calvo, F., Petit, C.,
RefAuthors Candotti, F., Abel, L., Fischer, A., Cavazzana-Calvo, M.
RefTitle Human adenylate kinase 2 deficiency causes a profound
RefTitle hematopoietic defect associated with sensorineural
RefTitle deafness.
RefLoc Nat Genet:106-111 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0130: 16276
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0130; GI:26665889; : 349
Feature /codon: cgg -> tgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 103
Feature /change: R -> W
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0130: 16276
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0130; GI:26665889; : 349
Feature /codon: cgg -> tgg; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 103
Feature /change: R -> W
Symptoms Deafness;
Ethnic origin Portugal
Parents Non-consanguineous
//
ID #S151X163(1a),#S151X163(1a); standard; MUTATION;
Accession A0009
Systematic name Allele 1 and 2: g.23325delC, c.453delC, r.453delc,
Systematic name p.Tyr152fsX12
Original code F4P1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19043417
RefAuthors Pannicke, U., Honig, M., Hess, I., Friesen, C., Holzmann,
RefAuthors K., Rump, E. M., Barth, T. F., Rojewski, M. T., Schulz,
RefAuthors A., Boehm, T., Friedrich, W., Schwarz, K.
RefTitle Reticular dysgenesis (aleukocytosis) is caused by
RefTitle mutations in the gene encoding mitochondrial adenylate
RefTitle kinase 2.
RefLoc Nat Genet:101-105 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IdRefSeq: D0130: 23325
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IdRefSeq: C0130; GI:26665889; : 495
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 151
Feature /change: S -> STTRSSTLQK SPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IdRefSeq: D0130: 23325
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IdRefSeq: C0130; GI:26665889; : 495
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 151
Feature /change: S -> STTRSSTLQK SPX
Symptoms Leukopenia;
Sex XY
Ethnic origin Turkey
IgA <0.06 g/l
IgM 0.3 g/l
Relative AK2base; A0010
//
ID #S151X163(1b),#S151X163(1b); standard; MUTATION;
Accession A0010
Systematic name Allele 1 and 2: g.23325delC, c.453delC, r.453delc,
Systematic name p.Tyr152fsX12
Original code F4P2
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 5 leading to a premature stop codon
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19043417
RefAuthors Pannicke, U., Honig, M., Hess, I., Friesen, C., Holzmann,
RefAuthors K., Rump, E. M., Barth, T. F., Rojewski, M. T., Schulz,
RefAuthors A., Boehm, T., Friedrich, W., Schwarz, K.
RefTitle Reticular dysgenesis (aleukocytosis) is caused by
RefTitle mutations in the gene encoding mitochondrial adenylate
RefTitle kinase 2.
RefLoc Nat Genet:101-105 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IdRefSeq: D0130: 23325
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IdRefSeq: C0130; GI:26665889; : 495
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 151
Feature /change: S -> STTRSSTLQK SPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IdRefSeq: D0130: 23325
Feature /change: -c
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IdRefSeq: C0130; GI:26665889; : 495
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 151
Feature /change: S -> STTRSSTLQK SPX
Symptoms Leukopenia; Anemia;
Sex XX
Ethnic origin Turkey
IgA <0.06 g/l
IgM <0.06 g/l
Relative AK2base; A0009
//
ID D165G(1),D165G(1); standard; MUTATION;
Accession A0001
Systematic name Allele 1 and 2: g.23366A>G, c.494A>G, r.494a>g, p.Asp165Gly
Original code P1
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19043416
RefAuthors Lagresle-Peyrou, C., Six, E. M., Picard, C., Rieux-Laucat,
RefAuthors F., Michel, V., Ditadi, A., Demerens-de Chappedelaine, C.,
RefAuthors Morillon, E., Valensi, F., Simon-Stoos, K. L., Mullikin,
RefAuthors J. C., Noroski, L. M., Besse, C., Wulffraat, N. M.,
RefAuthors Ferster, A., Abecasis, M. M., Calvo, F., Petit, C.,
RefAuthors Candotti, F., Abel, L., Fischer, A., Cavazzana-Calvo, M.
RefTitle Human adenylate kinase 2 deficiency causes a profound
RefTitle hematopoietic defect associated with sensorineural
RefTitle deafness.
RefLoc Nat Genet:106-111 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0130: 23366
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0130; GI:26665889; : 536
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 165
Feature /change: D -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0130: 23366
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0130; GI:26665889; : 536
Feature /codon: gat -> ggt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 165
Feature /change: D -> G
Symptoms Deafness;
Ethnic origin Western Africa
Parents Consanguineous
//
ID D165G(2),D165G(2); standard; MUTATION;
Accession A0002
Systematic name Allele 1 and 2: g.23366A>G, c.494A>G, r.494a>g, p.Asp165Gly
Original code P2
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19043416
RefAuthors Lagresle-Peyrou, C., Six, E. M., Picard, C., Rieux-Laucat,
RefAuthors F., Michel, V., Ditadi, A., Demerens-de Chappedelaine, C.,
RefAuthors Morillon, E., Valensi, F., Simon-Stoos, K. L., Mullikin,
RefAuthors J. C., Noroski, L. M., Besse, C., Wulffraat, N. M.,
RefAuthors Ferster, A., Abecasis, M. M., Calvo, F., Petit, C.,
RefAuthors Candotti, F., Abel, L., Fischer, A., Cavazzana-Calvo, M.
RefTitle Human adenylate kinase 2 deficiency causes a profound
RefTitle hematopoietic defect associated with sensorineural
RefTitle deafness.
RefLoc Nat Genet:106-111 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0130: 23366
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0130; GI:26665889; : 536
Feature /codon: gat -> ggt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 165
Feature /change: D -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0130: 23366
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IdRefSeq: C0130; GI:26665889; : 536
Feature /codon: gat -> ggt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 165
Feature /change: D -> G
Symptoms Deafness;
Ethnic origin Western Africa
Parents Consanguineous
//
ID #R175X183(1),#R175X183(1); standard; MUTATION;
Accession A0003
Systematic name Allele 1 and 2: g.24514delC, c.523delC, r.523delc,
Systematic name p.Arg175fsX9
Original code P3
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 6 leading to a premature stop codon
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19043416
RefAuthors Lagresle-Peyrou, C., Six, E. M., Picard, C., Rieux-Laucat,
RefAuthors F., Michel, V., Ditadi, A., Demerens-de Chappedelaine, C.,
RefAuthors Morillon, E., Valensi, F., Simon-Stoos, K. L., Mullikin,
RefAuthors J. C., Noroski, L. M., Besse, C., Wulffraat, N. M.,
RefAuthors Ferster, A., Abecasis, M. M., Calvo, F., Petit, C.,
RefAuthors Candotti, F., Abel, L., Fischer, A., Cavazzana-Calvo, M.
RefTitle Human adenylate kinase 2 deficiency causes a profound
RefTitle hematopoietic defect associated with sensorineural
RefTitle deafness.
RefLoc Nat Genet:106-111 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IdRefSeq: D0130: 24514
Feature /change: -c
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IdRefSeq: C0130; GI:26665889; : 565
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 175
Feature /change: R -> DQMIMKRPX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IdRefSeq: D0130: 24514
Feature /change: -c
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IdRefSeq: C0130; GI:26665889; : 565
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 175
Feature /change: R -> DQMIMKRPX
Symptoms Other clinical features: Deafness;
Ethnic origin Turkey
Parents Consanguineous
//
ID R186C(1),?; standard; MUTATION;
Accession A0004
Systematic name Allele 1: g.24547C>T, c.556C>T, r.556c>u, p.Arg186Cys
Original code P4
Description Allele 1: A point mutation in the exon 6 leading to
Description an amino acid change
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19043416
RefAuthors Lagresle-Peyrou, C., Six, E. M., Picard, C., Rieux-Laucat,
RefAuthors F., Michel, V., Ditadi, A., Demerens-de Chappedelaine, C.,
RefAuthors Morillon, E., Valensi, F., Simon-Stoos, K. L., Mullikin,
RefAuthors J. C., Noroski, L. M., Besse, C., Wulffraat, N. M.,
RefAuthors Ferster, A., Abecasis, M. M., Calvo, F., Petit, C.,
RefAuthors Candotti, F., Abel, L., Fischer, A., Cavazzana-Calvo, M.
RefTitle Human adenylate kinase 2 deficiency causes a profound
RefTitle hematopoietic defect associated with sensorineural
RefTitle deafness.
RefLoc Nat Genet:106-111 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0130: 24547
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IdRefSeq: C0130; GI:26665889; : 598
Feature /codon: cgc -> tgc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q8TCY3; AK2_HUMAN: 186
Feature /change: R -> C
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 Deafness;
Ethnic origin France
Parents Non-consanguineous
//
ID Intron 3(1),Intron 3(1); standard; MUTATION;
Accession A0008
Systematic name Allele 1 and 2: g.16430G>A, c.331-1G>A, r.331-1g>a
Original code F3P1
Description Allele 1 and 2: A point mutation in the intron 3 leading to
Description aberrant splicing
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19043417
RefAuthors Pannicke, U., Honig, M., Hess, I., Friesen, C., Holzmann,
RefAuthors K., Rump, E. M., Barth, T. F., Rojewski, M. T., Schulz,
RefAuthors A., Boehm, T., Friedrich, W., Schwarz, K.
RefTitle Reticular dysgenesis (aleukocytosis) is caused by
RefTitle mutations in the gene encoding mitochondrial adenylate
RefTitle kinase 2.
RefLoc Nat Genet:101-105 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0130: 16430
Feature /change: a -> a
Feature /genomic_region: intron; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0130: 16430
Feature /change: a -> 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
Symptoms Leukopenia; Intestinal stenosis;
Sex XY
Ethnic origin Germany
IgA <0.06 g/l
IgM 0.06 g/l
//
ID Intron 5(1),Intron 5(1); standard; MUTATION;
Accession A0011
Systematic name Allele 1 and 2: g.23371G>A, c.498+1G>A, r.498+1g>a
Original code F5P1
Description Allele 1 and 2: A point mutation in the intron 5 leading to
Description aberrant splicing
Date 04-Oct-2010 (Rel. 1, Created)
Date 04-Oct-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19043417
RefAuthors Pannicke, U., Honig, M., Hess, I., Friesen, C., Holzmann,
RefAuthors K., Rump, E. M., Barth, T. F., Rojewski, M. T., Schulz,
RefAuthors A., Boehm, T., Friedrich, W., Schwarz, K.
RefTitle Reticular dysgenesis (aleukocytosis) is caused by
RefTitle mutations in the gene encoding mitochondrial adenylate
RefTitle kinase 2.
RefLoc Nat Genet:101-105 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IdRefSeq: D0130: 23371
Feature /change: g -> a
Feature /genomic_region: intron; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IdRefSeq: D0130: 23371
Feature /change: g -> a
Feature /genomic_region: intron; 5
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 Leukopenia; Neonatal sepsis; Anemia;
Sex XX
Ethnic origin Turkey
IgM 0.14 g/l
//
//
|
