Database BLMbase
Version 2.1
File blmpub.html
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/BLMbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF89.html
Gene BLM
Disease Bloom's Syndrome
OMIM 210900
GDB 135698
Sequence IDRefSeq:D0004; IDRefSeq:C0004; UniProt:P54132
Numbering Start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry;
//
ID #N92X128(1),#N92X128(1); standard; MUTATION; IR1,IR1
Accession B0135
Systematic name Allele 1 and 2: g.33139delA, c.275delA, r.275dela,
Systematic name p.Asn92fsX37
Original code BSR186
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon in the IR1 domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33139
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 349
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 92
Feature /change: N -> MLQQDRKHRE VDQNHYCQIS CRLRRKLYAL PKTHQLX
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33139
Feature /change: -a
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 349
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 92
Feature /change: N -> MLQQDRKHRE VDQNHYCQIS CRLRRKLYAL PKTHQLX
Feature /domain: IR1
Ethnic origin Caucasoid; Indian
//
ID S104X(1),C1055S(2); standard; MUTATION; IR1,RecQCt
Accession B0113
Systematic name Allele 1: g.33175C>A, c.311C>A, r.311c>a, p.Ser104X
Systematic name Allele 2: g.77907G>C, c.3164G>C, r.3164g>c, p.Cys1055Ser
Original code BSR80 (Foundred 18)
Description Allele 1: A point mutation in the exon 3 leading to a
Description premature stop codon in the IR1 domain
Description Allele 2: A point mutation in the exon 16 leading to an
Description amino acid change in the IR1 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 33175
Feature /change: c -> a
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 385
Feature /codon: tca -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 104
Feature /change: S -> X
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 77907
Feature /change: g -> c
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 3238
Feature /codon: tgt -> tct; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 1055
Feature /change: C -> S
Feature /domain: RecQCt
Ethnic origin Caucasoid; Italian (Massachusetts)
//
ID #S186X(1a),#S186X(1a); standard; MUTATION; IR1,IR1
Accession B0001
Systematic name Allele 1 and 2: g.33421_33423delCAA, c.557_559delCAA,
Systematic name r.557_559delcaa, p.Ser186X
Original code 97(AsOk)
Description Allele 1 and 2; deletion leading to stop codon and
Description premature termination in intervening region 1
Date 26-May-1999 (Rel. 1, Created)
Date 09-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7585968
RefAuthors Ellis, N. A., Groden, J., Ye, T. Z., Straughen, J.,
RefAuthors Lennon, D. J., Ciocci, S., Proytcheva, M., German, J.
RefTitle The Bloom's syndrome gene product is homologous to RecQ
RefTitle helicases
RefLoc Cell 83:655-666 (1995)
RefNumber [2]
RefCrossRef PUBMED; 8980251
RefAuthors Kaneko, H., Inoue, R., Yamada, Y., Sukegawa, K., Fukao,
RefAuthors T., Tashita, H., Teramoto, T., Kasahara, K., Takami, T.,
RefAuthors Kondo, N.
RefTitle Microsatellite instability in B-cell lymphoma originating
RefTitle from Bloom syndrome
RefLoc Int. J. Cancer 69:480-483 (1996)
DB CrossRef OMIM; 210900.0002
DB CrossRef BS Registry; 97(AsOk)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: deletion
Feature /change: -caa
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 631
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 186
Feature /change: S -> X
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink; 5
Feature /name: deletion
Feature /change: -caa
Feature rna; 5
Feature /dnalink; 4
Feature /aalink; 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 631
Feature aa; 6
Feature /rnalink: 5
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 186
Feature /change: S -> X
Feature /domain: IR1
Sex XX
Age 25
Ethnic origin Mongoloid; Japan
Parents consanguineous
Relative BLM; B0009 brother
//
ID #S186X(1b),#S186X(1b); standard; MUTATION; IR1,IR1
Accession B0009
Original code 96(HiOk)
Systematic name Allele 1 and 2: g.33421_33423delCAA, c.557_559delCAA,
Systematic name r.557_559delcaa, p.Ser186X
Description Allele 1 and 2; deletion leading to stop codon and
Description premature termination in intervening region 1
Date 26-May-1999 (Rel. 1, Created)
Date 09-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8980251
RefAuthors Kaneko, H., Inoue, R., Yamada, Y., Sukegawa, K., Fukao,
RefAuthors T., Tashita, H., Teramoto, T., Kasahara, K., Takami, T.,
RefAuthors Kondo, N.
RefTitle Microsatellite instability in B-cell lymphoma originating
RefTitle from Bloom syndrome
RefLoc Int. J. Cancer 69:480-483 (1996)
DB CrossRef BS Registry; 96(HiOk)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: deletion
Feature /change: -caa
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 631
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 186
Feature /change: S -> X
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink; 5
Feature /name: deletion
Feature /change: -caa
Feature rna; 5
Feature /dnalink; 4
Feature /aalink; 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 631
Feature aa; 6
Feature /rnalink: 5
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 186
Feature /change: S -> X
Feature /domain: IR1
Sex XY
Age 23
Ethnic origin Mongoloid; Japan
Parents consanguineous
Relative BLM; B0001 sister
//
ID #S186X(2),@N515X516(3); standard; MUTATION; IR1,IR3
Accession B0034
Systematic name Allele 1: g.33421_33423delCAA, c.557_559delCAA,
Systematic name r.557_559delcaa, p.Ser186X
Systematic name Allele 2: g.44513dupA, c.1544dupA, r.1544dupa, p.Asn515fsX2
Original code Case 1
Description Allele 1; deletion leading to stop codon and
Description premature termination in intervening region 1
Description Allele 2: A frame shift duplication mutation in the exon 7
Description leading to a premature stop codon in the IR1 domain
Date 09-May-2007 (Rel. 1, Created)
Date 09-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15289897
RefAuthors Kaneko, H., Isogai, K., Fukao, T., Matsui, E., Kasahara,
RefAuthors K., Yachie, A., Seki, H., Koizumi, S., Arai, M.,
RefAuthors Utunomiya, J., Miki, Y., Kondo, N.
RefTitle Relatively common mutations of the bloom syndrome gene in
RefTitle the japanese population.
RefLoc Int J Mol Med:439-442 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33421..33423
Feature /change: -caa
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0004: 631..633
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P54132; BLM_HUMAN: 186..187
Feature /change: SK -> X
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 44514
Feature /change: +a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1619
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 515
Feature /change: N -> KX
Feature /domain: IR3
Sex XX
//
ID #S186X(3),#S186X(3); standard; MUTATION; IR1,IR1
Accession B0035
Systematic name Allele 1 and 2: g.33421_33423delCAA, c.557_559delCAA,
Systematic name r.557_559delcaa, p.Ser186X
Original code Case 2
Description Allele 1 and 2; deletion leading to stop codon and
Description premature termination in intervening region 1
Date 09-May-2007 (Rel. 1, Created)
Date 09-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15289897
RefAuthors Kaneko, H., Isogai, K., Fukao, T., Matsui, E., Kasahara,
RefAuthors K., Yachie, A., Seki, H., Koizumi, S., Arai, M.,
RefAuthors Utunomiya, J., Miki, Y., Kondo, N.
RefTitle Relatively common mutations of the bloom syndrome gene in
RefTitle the japanese population.
RefLoc Int J Mol Med:439-442 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33421..33423
Feature /change: -caa
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0004: 631..633
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P54132; BLM_HUMAN: 186..187
Feature /change: SK -> X
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33421..33423
Feature /change: -caa
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0004: 631..633
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P54132; BLM_HUMAN: 186..187
Feature /change: SK -> X
Feature /domain: IR1
Symptoms Burkitt's lymphoma, diabetes mellitus
Sex XX
//
ID #S186X(4),Intron 8(1); standard; MUTATION; IR1,
Accession B0116
Systematic name Allele 1: g.33421_33423delCAA, c.557_559delCAA,
Systematic name r.557_559delcaa, p.Ser186X
Systematic name Allele 2: g.IVS8+1G>T, c.2074+1G>T, r.2074+1g>u
Original code BSR78 (Foundred 19)
Description Allele 1; deletion leading to stop codon and
Description premature termination in intervening region 1
Description Allele 2: A point mutation in the intron 8 leading to an
Description amino acid change in the IR1 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33421..33423
Feature /change: -caa
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0004: 631..633
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P54132; BLM_HUMAN: 186..187
Feature /change: SK -> X
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46754
Feature /change: g -> t
Feature /genomic_region: intron; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Mongoloid; Japan
//
ID #S186X(5),@N515X516(4); standard; MUTATION; IR1,IR3
Accession B0117
Systematic name Allele 1: g.33421_33423delCAA, c.557_559delCAA,
Systematic name r.557_559delcaa, p.Ser186X
Systematic name Allele 2: g.44513dupA, c.1544dupA, r.1544dupa, p.Asn515fsX2
Original code BSR100 (Foundred 19/Foundred 20)
Description Allele 1; deletion leading to stop codon and
Description premature termination in intervening region 1
Description Allele 2: A frame shift duplication mutation in the exon 7
Description leading to a premature stop codon in the IR1 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33421..33423
Feature /change: -caa
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0004: 631..633
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P54132; BLM_HUMAN: 186..187
Feature /change: SK -> X
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 44514
Feature /change: +a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1619
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 515
Feature /change: N -> KX
Feature /domain: IR3
Ethnic origin Mongoloid; Japan
Parents Consanguineous
//
ID #S186X(6),#S186X(6); standard; MUTATION; IR1,IR1
Accession B0118
Systematic name Allele 1 and 2: g.33421_33423delCAA, c.557_559delCAA,
Systematic name r.557_559delcaa, p.Ser186X
Original code BSR110 (Foundred 19)
Description Allele 1 and 2; deletion leading to stop codon and
Description premature termination in intervening region 1
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33421..33423
Feature /change: -caa
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0004: 631..633
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P54132; BLM_HUMAN: 186..187
Feature /change: SK -> X
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33421..33423
Feature /change: -caa
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0004: 631..633
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P54132; BLM_HUMAN: 186..187
Feature /change: SK -> X
Feature /domain: IR1
Ethnic origin Mongoloid; Japan
//
ID #S186X(7),#S186X(7); standard; MUTATION; IR1,IR1
Accession B0119
Systematic name Allele 1 and 2: g.33421_33423delCAA, c.557_559delCAA,
Systematic name r.557_559delcaa, p.Ser186X
Original code BSR128 (Foundred 19)
Description Allele 1 and 2; deletion leading to stop codon and
Description premature termination in intervening region 1
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33421..33423
Feature /change: -caa
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0004: 631..633
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P54132; BLM_HUMAN: 186..187
Feature /change: SK -> X
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33421..33423
Feature /change: -caa
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0004: 631..633
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: P54132; BLM_HUMAN: 186..187
Feature /change: SK -> X
Feature /domain: IR1
Ethnic origin Mongoloid; Japan
Parents Consanguineous
//
ID F194X(1),F194X(1); standard; MUTATION; IR1,IR1
Accession B0144
Systematic name Allele 1 and 2: g.33445_33446delTT, c.581_582delTT,
Systematic name r.581_582deluu, p.Phe194X
Original code IC-T1
Description Allele 1 and 2: A deletion mutation in the exon 3 leading
Description to a premature stop codon in the IR1 domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18471088
RefAuthors Amor-Gueret, M., Dubois-d'Enghien, C., Lauge, A., Onclercq-
RefAuthors Delic, R., Barakat, A., Chadli, E., Bousfiha, A. A.,
RefAuthors Benjelloun, M., Flori, E., Doray, B., Laugel, V.,
RefAuthors Lourenxo, M. T., Gonxalves, R., Sousa, S., Couturier, J.,
RefAuthors Stoppa-Lyonnet, D.
RefTitle Three new BLM gene mutations associated with bloom
RefTitle syndrome.
RefLoc Genet Test:257-261 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33445..33446
Feature /change: -tt
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004; GI:1705486; BLMC: 655..656
Feature /codon: ttt -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: BLM_HUMAN: 194
Feature /change: F -> X
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33445..33446
Feature /change: -tt
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004; GI:1705486; BLMC: 655..656
Feature /codon: ttt -> taa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: BLM_HUMAN: 194
Feature /change: F -> X
Feature /domain: IR1
Symptoms Pigmentation spots on the body; Respiratory tract
Symptoms infections; Sun-sensitive erythema
Age 9
Sex XY
Parents Consanguineous
Comment Presence of two right kidneys in patient.
//
ID @F194X195(1),@F194X195(1); standard; MUTATION; IR1,IR1
Accession B0143
Systematic name Allele 1 and 2: g.33445dupT, c.581dupT, r.581dupu,
Systematic name p.Lys195fsX1
Original code BSR232
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 3 leading to a premature stop codon in the IR1 domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 33446
Feature /change: +t
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 656
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 194
Feature /change: F -> FX
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 33446
Feature /change: +t
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 656
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 194
Feature /change: F -> FX
Feature /domain: IR1
Ethnic origin Caucasoid; Ecuadorian/El Salvadorian
Parents Consanguineous
//
ID #L258X264(1),#L258X264(1); standard; MUTATION; IR1,IR1
Accession B0139
Systematic name Allele 1 and 2: g.33636_33637delCT, c.772_773delCT,
Systematic name r.772_773delcu, p.Leu258fsX7
Original code BSR211
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 3 leading to a premature stop codon in the IR1 domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33636..33637
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 846..847
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 258
Feature /change: L -> ENSFGRX
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 33636..33637
Feature /change: -ct
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 846..847
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 258
Feature /change: L -> ENSFGRX
Feature /domain: IR1
Ethnic origin West African
//
ID K272X(1),?; standard; MUTATION; IR1
Accession B0002
Original code 112(NaSch)
Description Allele 1; point mutation leading to stop codon and
Description premature termination in intervening region 1
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7585968
RefAuthors Ellis, N. A., Groden, J., Ye, T. Z., Straughen, J.,
RefAuthors Lennon, D. J., Ciocci, S., Proytcheva, M., German, J.
RefTitle The Bloom's syndrome gene product is homologous to RecQ
RefTitle helicases
RefLoc Cell 83:655-666 (1995)
DB CrossRef BS Registry; 112(NaSch)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: point
Feature /change: a -> t
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 888
Feature /codon: aag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 272
Feature /change: K -> X
Feature /domain: IR1
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
Ethnic origin Caucasoid;
//
ID K272X(2),Intron 6(1); standard; MUTATION; IR1,
Accession B0131
Systematic name Allele 1: g.35397A>T, c.814A>T, r.814a>u, p.Lys272X
Systematic name Allele 2: g.IVS6+3A>G, c.1220+3A>G, r.1220+3a>g
Original code BSR112
Description Allele 1: A point mutation in the exon 4 leading to a
Description premature stop codon in the IR1 domain
Description Allele 2: A point mutation in the intron 6 leading to an
Description amino acid change in the IR1 domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 35397
Feature /change: a -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 888
Feature /codon: aag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 272
Feature /change: K -> X
Feature /domain: IR1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 43878
Feature /change: a -> g
Feature /genomic_region: intron; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Caucasoid; N. American
//
ID #K331X334(1),#D1010X1033(3); standard; MUTATION; IR3,RecQCt
Accession B0103
Systematic name Allele 1: g.38438_38442delAAAGA, c.991_995delAAAGA,
Systematic name r.991_995delaaaga, p.Lys331fsX4
Systematic name Allele 2: g.77771delG, c.3028delG, r.3028delg,
Systematic name p.Asp1010fsX24
Original code BSR207 (Foundred 11/Foundred 14)
Description Allele 1: A frame shift deletion mutation in the exon 5
Description leading to a premature stop codon in the IR3 domain
Description Allele 2: A frame shift deletion mutation in the exon 16
Description leading to a premature stop codon in the IR3 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 38438..38442
Feature /change: -aaaga
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1065..1069
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 331..332
Feature /change: KE -> GCSX
Feature /domain: IR3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 77771
Feature /change: -g
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3102
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1010
Feature /change: D -> METIIQEKLT SIICIAWYIT VKIX
Feature /domain: RecQCt
Ethnic origin Caucasoid; Kentucky
//
ID #K331X334(2),Q548X(1); standard; MUTATION; IR3,IR3
Accession B0104
Systematic name Allele 1: g.38438_38442delAAAGA, c.991_995delAAAGA,
Systematic name r.991_995delaaaga, p.Lys331fsX4
Systematic name Allele 2: g.44611C>T, c.1642C>T, r.1642c>u, p.Gln548X
Original code BSR167 (Foundred 12/Foundred 14)
Description Allele 1: A frame shift deletion mutation in the exon 5
Description leading to a premature stop codon in the IR3 domain
Description Allele 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the IR3 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 38438..38442
Feature /change: -aaaga
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1065..1069
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 331..332
Feature /change: KE -> GCSX
Feature /domain: IR3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 44611
Feature /change: c -> t
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 1716
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 548
Feature /change: Q -> X
Feature /domain: IR3
Ethnic origin American (Virginia)
//
ID R364X(1),?; premilinary; MUTATION; IR3
Accession B0024
Description Allele 1; nonsense mutation leading to stop codon
Description and premature termination in intervening region 3
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Giocci, S., Ye, T., Neff, N., German, J.
RefTitle Mutational analysis of the BLM gene in
RefTitle non-Ashkenazi-Jewish persons with Bloom's syndrome
RefLoc (in) Byers, P. H.(Ed.), The American Journal of Human
RefLoc Genetics, Program and abstracts of 1997 annual meeting,
RefLoc vol. 61(4) Suppl., Posters: Molecular Basis of Mendelian
RefLoc Disorders, Abs. 1943, p. A332, The Lund University Chicago
RefLoc press, (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: nonsense
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 364
Feature /change: R -> X
Feature /domain: IR3
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
//
ID W567X(1),R364X(2); standard; MUTATION; IR4,IR3
Accession B0129
Systematic name Allele 1: g.44670G>A, c.1701G>A, r.1701g>a, p.Trp567X
Systematic name Allele 2: g.43745A>T, c.1090A>T, r.1090a>u, p.Arg364X
Original code BSR98
Description Allele 1: A point mutation in the exon 7 leading to a
Description premature stop codon in the IR4 domain
Description Allele 2: A point mutation in the exon 6 leading to a
Description premature stop codon in the IR4 domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 44670
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 1775
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 567
Feature /change: W -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 43745
Feature /change: a -> t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 1164
Feature /codon: aga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 364
Feature /change: R -> X
Feature /domain: IR3
Ethnic origin Caucasoid; N. American
//
ID Q645X(6),W428X(1); standard; MUTATION; IR4,IR3
Accession B0074
Systematic name Allele 1: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Systematic name Allele 2: g.44253G>A, c.1284G>A, r.1284g>a, p.Trp428X
Original code BSR91 (Foundred 7/Foundred 16)
Description Allele 1: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Description Allele 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 44253
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 1358
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 428
Feature /change: W -> X
Feature /domain: IR3
Ethnic origin Caucasoid; The Netherlands
//
ID Q645X(10),W428X(2); standard; MUTATION; IR4,IR3
Accession B0078
Systematic name Allele 1: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Systematic name Allele 2: g.44253G>A, c.1284G>A, r.1284g>a, p.Trp428X
Original code BSR118 (Foundred 7/Foundred 16)
Description Allele 1: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Description Allele 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 44253
Feature /change: g -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 1358
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 428
Feature /change: W -> X
Feature /domain: IR3
Ethnic origin Caucasoid; Germany
//
ID #S449X450(1),#S449X450(1); standard; MUTATION; IR3,IR3
Accession B0127
Systematic name Allele 1 and 2: g.44315delC, c.1346delC, r.1346delc,
Systematic name p.Ser449fsX2
Original code BSR74
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 7 leading to a premature stop codon in the IR3 domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 44315
Feature /change: -c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1420
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 449
Feature /change: S -> LX
Feature /domain: IR3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 44315
Feature /change: -c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1420
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 449
Feature /change: S -> LX
Feature /domain: IR3
Ethnic origin Caucasoid; Turkish
Parents Consanguineous
//
ID @N515X516(1),@N515X516(1); standard; MUTATION; IR3,IR3
Accession B0003
Systematic name Allele 1 and 2: g.44513dupA, c.1544dupA, r.1544dupa,
Systematic name p.Asn515fsX2
Original code 93(YoYa)
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 7 leading to a premature stop codon in the IR3 domain
Date 26-May-1999 (Rel. 1, Created)
Date 04-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7585968
RefAuthors Ellis, N. A., Groden, J., Ye, T. Z., Straughen, J.,
RefAuthors Lennon, D. J., Ciocci, S., Proytcheva, M., German, J.
RefTitle The Bloom's syndrome gene product is homologous to RecQ
RefTitle helicases
RefLoc Cell 83:655-666 (1995)
DB CrossRef BS Registry; 93(YoYa)
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 44514
Feature /change: +a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1619
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 515
Feature /change: N -> KX
Feature /domain: IR3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 44514
Feature /change: +a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1619
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 515
Feature /change: N -> KX
Feature /domain: IR3
Ethnic origin Mongoloid;
//
ID @N515X516(2),Q752X(1); standard; MUTATION; IR3,DEAH
Accession B0020
Original code 71
Systematic name Allele 1: g.44513dupA, c.1544dupA, r.1544dupa, p.Asn515fsX2
Description Allele 1: A frame shift duplication mutation in the exon 7
Description leading to a premature stop codon in the IR3 domain
Description Allele 2; point mutation leading to stop codon and
Description premature termination in DEAH helicase domain
Date 08-Jun-1999 (Rel. 1, Created)
Date 04-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Jun-1999) to the BLMbase
RefLoc Bloom's Syndrome Registry, NY Blood Center, 310 East 67th
RefLoc Street, New York NY 10021
DB CrossRef BS Registry; 71
DB CrossRef Coriell Cell Repository; GM02548
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 44514
Feature /change: +a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1619
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 515
Feature /change: N -> KX
Feature /domain: IR3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink; 5
Feature /name: point
Feature /change: c -> t
Feature rna; 5
Feature /dnalink; 4
Feature /aalink; 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2328
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 752
Feature /change: Q -> X
Feature /domain: DEAH
Sex XY
Age 6
Ethnic origin Negroid;
//
ID #G512X530(1),?; standard; MUTATION; IR3
Accession B0008
Description Allele 1; deletion leading to frameshift and premature
Description termination in intervening region 3
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9731483
RefAuthors Calin, G., Herlea, V., Barbanti-Brodano, G., Negrini, M.
RefTitle The coding region of the Bloom syndrome BLM gene and of
RefTitle the CBL proto-oncogene is mutated in genetically unstable
RefTitle sporadic gastrointestinal tumors
RefLoc Cancer Res. 58:3777-81 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: deletion
Feature /change: -a
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1610
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 512
Feature /change: G -> GKKMKALISQ EMFSQALLX
Feature /domain: IR3
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
//
ID @N515X516(5),@N515X516(5); standard; MUTATION; IR3,IR3
Accession B0120
Systematic name Allele 1 and 2: g.44513dupA, c.1544dupA, r.1544dupa,
Systematic name p.Asn515fsX2
Original code BSR86 (Foundred 20)
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 7 leading to a premature stop codon in the IR3 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 44514
Feature /change: +a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1619
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 515
Feature /change: N -> KX
Feature /domain: IR3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 44514
Feature /change: +a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1619
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 515
Feature /change: N -> KX
Feature /domain: IR3
Ethnic origin Mongoloid; Japan
//
ID @N515X516(6),@N515X516(6); standard; MUTATION; IR3,IR3
Accession B0121
Systematic name Allele 1 and 2: g.44513dupA, c.1544dupA, r.1544dupa,
Systematic name p.Asn515fsX2
Original code BSR129 (Foundred 20)
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 7 leading to a premature stop codon in the IR3 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 44514
Feature /change: +a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1619
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 515
Feature /change: N -> KX
Feature /domain: IR3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 44514
Feature /change: +a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 1619
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 515
Feature /change: N -> KX
Feature /domain: IR3
Ethnic origin Mongoloid; Japan
Parents Consanguineous
//
ID L543X(1),L543X(1); standard; MUTATION; IR3,IR3
Accession B0136
Systematic name Allele 1 and 2: g.44597T>A, c.1628T>A, r.1628u>a, p.Leu543X
Original code BSR192
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the IR3 domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 44597
Feature /change: t -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 1702
Feature /codon: tta -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 543
Feature /change: L -> X
Feature /domain: IR3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 44597
Feature /change: t -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 1702
Feature /codon: tta -> taa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 543
Feature /change: L -> X
Feature /domain: IR3
Ethnic origin Caucasoid; Turkish
Parents Consanguineous
//
ID Q548X(2),Intron 7(1); standard; MUTATION; IR3,
Accession B0105
Systematic name Allele 1: g.44611C>T, c.1642C>T, r.1642c>u, p.Gln548X
Systematic name Allele 2: g.IVS7+5G>A, c.1882+5G>A, r.1882+5g>a
Original code BSR202 (Foundred 12)
Description Allele 1: A point mutation in the exon 7 leading to a
Description premature stop codon in the IR3 domain
Description Allele 2: A point mutation in the intron 7 leading to an
Description amino acid change in the IR3 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 44611
Feature /change: c -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 1716
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 548
Feature /change: Q -> X
Feature /domain: IR3
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 44856
Feature /change: g -> a
Feature /genomic_region: intron; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Caucasoid; Germany
//
ID S595X(1),?; premilinary; MUTATION; IR4
Accession B0025
Description Allele 1; nonsense mutation leading to stop codon and
Description premature termination in intervening region 4
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Giocci, S., Ye, T., Neff, N., German, J.
RefTitle Mutational analysis of the BLM gene in
RefTitle non-Ashkenazi-Jewish persons with Bloom's syndrome
RefLoc (in) Byers, P. H.(Ed.), The American Journal of Human
RefLoc Genetics, Program and abstracts of 1997 annual meeting,
RefLoc vol. 61(4) Suppl., Posters: Molecular Basis of Mendelian
RefLoc Disorders, Abs. 1943, p. A332, The Lund University Chicago
RefLoc press, (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: nonsense
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 595
Feature /change: S -> X
Feature /domain: IR4
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
//
ID S595X(2),S595X(2); standard; MUTATION; IR4,IR4
Accession B0128
Systematic name Allele 1 and 2: g.44753C>A, c.1784C>A, r.1784c>a, p.Ser595X
Original code BSR81
Description Allele 1 and 2: A point mutation in the exon 7 leading to a
Description premature stop codon in the IR4 domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 44753
Feature /change: c -> a
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 1858
Feature /codon: tca -> taa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 595
Feature /change: S -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 44753
Feature /change: c -> a
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 1858
Feature /codon: tca -> taa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 595
Feature /change: S -> X
Feature /domain: IR4
Ethnic origin Caucasoid; French Canadian
Parents Consanguineous
//
ID Q645X(1),?; premilinary; MUTATION; IR4
Accession B0026
Description Allele 1; nonsense mutation leading to stop codon and
Description premature termination in intervening region 4
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Giocci, S., Ye, T., Neff, N., German, J.
RefTitle Mutational analysis of the BLM gene in
RefTitle non-Ashkenazi-Jewish persons with Bloom's syndrome
RefLoc (in) Byers, P. H.(Ed.), The American Journal of Human
RefLoc Genetics, Program and abstracts of 1997 annual meeting,
RefLoc vol. 61(4) Suppl., Posters: Molecular Basis of Mendelian
RefLoc Disorders, Abs. 1943, p. A332, The Lund University Chicago
RefLoc press, (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: nonsense
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
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
//
ID Q645X(2),Q645X(2); standard; MUTATION; IR4,IR4
Accession B0070
Systematic name Allele 1 and 2: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Original code BSR11 (Foundred 7)
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
Ethnic origin Caucasoid; Ontario
//
ID Q645X(3),Q645X(3); standard; MUTATION; IR4,IR4
Accession B0071
Systematic name Allele 1 and 2: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Original code BSR61 (Foundred 7)
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
Ethnic origin Caucasoid; California
//
ID Q645X(4),@L751X775(1); standard; MUTATION; IR4,DEAH
Accession B0072
Systematic name Allele 1: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Systematic name Allele 2: g.50562_50563insAAAT, c.2250_2251insAAAT,
Systematic name r.2250_2251insaaau, p.Leu751fsX25
Original code BSR64 (Foundred 7/Foundred 15)
Description Allele 1: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Description Allele 2: A frame shift insertion mutation in the exon 10
Description leading to a premature stop codon in the IR4 domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0004: 50563
Feature /change: +aaat
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2325
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 751
Feature /change: L -> KSPVIKKRPN HKTSICHSRK DLCKX
Feature /domain: DEAH
Ethnic origin Caucasoid; Ohio
Parents Consanguineous
//
ID Q645X(5),Q645X(5); standard; MUTATION; IR4,IR4
Accession B0073
Systematic name Allele 1 and 2: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Original code BSR67 (Foundred 7)
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
Ethnic origin Caucasoid; The Netherlands
//
ID Q645X(7),Q909X(1); standard; MUTATION; IR4,DEAH
Accession B0075
Systematic name Allele 1: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Systematic name Allele 2: g.68579C>T, c.2725C>T, r.2725c>u, p.Gln909X
Original code BSR105 (Foundred 7)
Description Allele 1: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Description Allele 2: A point mutation in the exon 14 leading to a
Description premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68579
Feature /change: c -> t
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2799
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 909
Feature /change: Q -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; Texas
//
ID Q645X(8),@R1075X1079(1); standard; MUTATION; IR4,RecQCt
Accession B0076
Systematic name Allele 1: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Systematic name Allele 2: g.81798dupA, c.3223dupA, r.3223dupa,
Systematic name p.Arg1075fsX5
Original code BSR114 (Foundred 7)
Description Allele 1: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Description Allele 2: A frame shift duplication mutation in the exon 17
Description leading to a premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 81799
Feature /change: +a
Feature /genomic_region: exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3298
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1075
Feature /change: R -> KRCDX
Feature /domain: RecQCt
Ethnic origin Caucasoid; Germany
//
ID Q645X(9),Q700X(2); standard; MUTATION; IR4,DEAH
Accession B0077
Systematic name Allele 1: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Systematic name Allele 2: g.48915C>T, c.2098C>T, r.2098c>u, p.Gln700X
Original code BSR115 (Foundred 7/Foundred 17)
Description Allele 1: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Description Allele 2: A point mutation in the exon 9 leading to a
Description premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 48915
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2172
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 700
Feature /change: Q -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; Florida
//
ID Q645X(11),Q645X(11); standard; MUTATION; IR4,IR4
Accession B0079
Systematic name Allele 1 and 2: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Original code BSR133 (Foundred 7)
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
Ethnic origin Caucasoid; Germany
//
ID Q645X(12),Q645X(12); standard; MUTATION; IR4,IR4
Accession B0080
Systematic name Allele 1 and 2: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Original code BSR147 (Foundred 7)
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
Ethnic origin Caucasoid; Belgium
//
ID Q645X(13),#Q975X998(1); standard; MUTATION; IR4,DEAH
Accession B0081
Systematic name Allele 1: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Systematic name Allele 2: g.74344delC, c.2923delC, r.2923delc,
Systematic name p.Gln975fsX24
Original code BSR164 (Foundred 7/Foundred 9)
Description Allele 1: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Description Allele 2: A frame shift deletion mutation in the exon 15
Description leading to a premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 74344
Feature /change: -c
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2997
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 975
Feature /change: Q -> KNLAELEEMG KYLTACFSIP IMMX
Feature /domain: DEAH
Ethnic origin Caucasoid; New Brunswick
//
ID Q645X(14),Q645X(14); standard; MUTATION; IR4,IR4
Accession B0082
Systematic name Allele 1 and 2: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Original code BSR169 (Foundred 7)
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
Ethnic origin Caucasoid; Ontario
//
ID Q645X(15),#F1087X1097(3); standard; MUTATION; IR4,IR5
Accession B0083
Systematic name Allele 1: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Systematic name Allele 2: g.81836delT, c.3261delT, r.3261delu,
Systematic name p.Phe1087fsX11
Original code BSR170 (Foundred 7/Foundred 10)
Description Allele 1: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Description Allele 2: A frame shift deletion mutation in the exon 17
Description leading to a premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 81836
Feature /change: -t
Feature /genomic_region: exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3335
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1087
Feature /change: F -> LFKNIVHHKE X
Feature /domain: IR5
Ethnic origin Caucasoid; New York
//
ID Q645X(16),R899X(2); standard; MUTATION; IR4,DEAH
Accession B0084
Systematic name Allele 1: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Systematic name Allele 2: g.68549C>T, c.2695C>T, r.2695c>u, p.Arg899X
Original code BSR177 (Foundred 7/Foundred 8)
Description Allele 1: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Description Allele 2: A point mutation in the exon 14 leading to a
Description premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; Michigan
//
ID Q645X(17),R899X(3); standard; MUTATION; IR4,DEAH
Accession B0085
Systematic name Allele 1: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Systematic name Allele 2: g.68549C>T, c.2695C>T, r.2695c>u, p.Arg899X
Original code BSR183 (Foundred 7/Foundred 8)
Description Allele 1: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Description Allele 2: A point mutation in the exon 14 leading to a
Description premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; Utah
//
ID Q645X(18),Q645X(18); standard; MUTATION; IR4,IR4
Accession B0086
Systematic name Allele 1 and 2: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Original code BSR188 (Foundred 7)
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
Ethnic origin Caucasoid; Belgium
Parents Consanguineous
//
ID Q645X(19),Q645X(19); standard; MUTATION; IR4,IR4
Accession B0087
Systematic name Allele 1 and 2: g.46612C>T, c.1933C>T, r.1933c>u, p.Gln645X
Original code BSR189 (Foundred 7)
Description Allele 1 and 2: A point mutation in the exon 8 leading to a
Description premature stop codon in the IR4 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46612
Feature /change: c -> t
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2007
Feature /codon: caa -> taa; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: IR4
Ethnic origin Caucasoid; California
//
ID @M656X661(1),?; premilinary; MUTATION; DEAH
Accession B0029
Description Allele 1; insertion leading to frameshift and premature
Description termination in DEAH helicase domain
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Giocci, S., Ye, T., Neff, N., German, J.
RefTitle Mutational analysis of the BLM gene in
RefTitle non-Ashkenazi-Jewish persons with Bloom's syndrome
RefLoc (in) Byers, P. H.(Ed.), The American Journal of Human
RefLoc Genetics, Program and abstracts of 1997 annual meeting,
RefLoc vol. 61(4) Suppl., Posters: Molecular Basis of Mendelian
RefLoc Disorders, Abs. 1943, p. A332, The Lund University Chicago
RefLoc press, (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: insertion
Feature /change: +g
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2042
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 656
Feature /change: M -> MEDFSX
Feature /domain: DEAH
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
//
ID @K657X661(1),@K657X661(1); standard; MUTATION; DEAH,DEAH
Accession B0124
Systematic name Allele 1 and 2: g.46647dupG, c.1968dupG, r.1968dupg,
Systematic name p.Lys657fsX5
Original code BSR17
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 8 leading to a premature stop codon in the DEAH domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 46648
Feature /change: +g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2043
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 657
Feature /change: K -> EDFSX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 46648
Feature /change: +g
Feature /genomic_region: exon; 8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2043
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 657
Feature /change: K -> EDFSX
Feature /domain: DEAH
Ethnic origin Caucasoid; N. American
Parents Consanguineous
//
ID Q672R(1),?; standard; MUTATION; DEAH
Accession B0004
Original code 139(ViKre)
Description Allele 1; missense mutation leading to amino acid change
Description in DEAH helicase domain
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7585968
RefAuthors Ellis, N. A., Groden, J., Ye, T. Z., Straughen, J.,
RefAuthors Lennon, D. J., Ciocci, S., Proytcheva, M., German, J.
RefTitle The Bloom's syndrome gene product is homologous to RecQ
RefTitle helicases
RefLoc Cell 83:655-666 (1995)
DB CrossRef BS Registry; 139(ViKre)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: point
Feature /change: a -> g
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2089
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 672
Feature /change: Q -> R
Feature /domain: DEAH
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
Ethnic origin Caucasoid;
//
ID Q672R(2),Intron 5(1); standard; MUTATION; DEAH,
Accession B0106
Systematic name Allele 1: g.46694A>G, c.2015A>G, r.2015a>g, p.Gln672Arg
Systematic name Allele 2: g.IVS5-2A>G, c.1088-2A>G, r.
Original code BSR31 (Foundred 13)
Description Allele 1: A point mutation in the exon 8 leading to an
Description amino acid change in the DEAH domain
Description Allele 2: A point mutation in the intron 5 leading to an
Description amino acid change in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 46694
Feature /change: a -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2089
Feature /codon: cag -> cgg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 672
Feature /change: Q -> R
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 43741
Feature /change: a -> g
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: -2
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Caucasoid; Belgium
//
ID Q700X(1),?; premilinary; MUTATION; DEAH
Accession B0027
Description Allele 1; nonsense mutation leading to stop codon and
Description premature termination in DEAH helicase domain
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Giocci, S., Ye, T., Neff, N., German, J.
RefTitle Mutational analysis of the BLM gene in
RefTitle non-Ashkenazi-Jewish persons with Bloom's syndrome
RefLoc (in) Byers, P. H.(Ed.), The American Journal of Human
RefLoc Genetics, Program and abstracts of 1997 annual meeting,
RefLoc vol. 61(4) Suppl., Posters: Molecular Basis of Mendelian
RefLoc Disorders, Abs. 1943, p. A332, The Lund University Chicago
RefLoc press, (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: nonsense
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 645
Feature /change: Q -> X
Feature /domain: DEAH
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
//
ID Q700X(3),#Q975X998(5); standard; MUTATION; DEAH,DEAH
Accession B0098
Systematic name Allele 1: g.48915C>T, c.2098C>T, r.2098c>u, p.Gln700X
Systematic name Allele 2: g.74344delC, c.2923delC, r.2923delc,
Systematic name p.Gln975fsX24
Original code BSR146 (Foundred 9/Foundred 17)
Description Allele 1: A point mutation in the exon 9 leading to a
Description premature stop codon in the DEAH domain
Description Allele 2: A frame shift deletion mutation in the exon 15
Description leading to a premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 48915
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2172
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 700
Feature /change: Q -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 74344
Feature /change: -c
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2997
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 975
Feature /change: Q -> KNLAELEEMG KYLTACFSIP IMMX
Feature /domain: DEAH
Ethnic origin Caucasoid; Minnesota
//
ID Q700X(4),Q700X(4); standard; MUTATION; DEAH,DEAH
Accession B0107
Systematic name Allele 1 and 2: g.48915C>T, c.2098C>T, r.2098c>u, p.Gln700X
Original code BSR5 (Foundred 17)
Description Allele 1 and 2: A point mutation in the exon 9 leading to a
Description premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 48915
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2172
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 700
Feature /change: Q -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 48915
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2172
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 700
Feature /change: Q -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; Colorado
Parents Consanguineous
//
ID Q700X(5),Q700X(5); standard; MUTATION; DEAH,DEAH
Accession B0108
Systematic name Allele 1 and 2: g.48915C>T, c.2098C>T, r.2098c>u, p.Gln700X
Original code BSR51 (Foundred 17)
Description Allele 1 and 2: A point mutation in the exon 9 leading to a
Description premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 48915
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2172
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 700
Feature /change: Q -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 48915
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2172
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 700
Feature /change: Q -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; Kentucky
Parents Consanguineous
//
ID Q700X(6),Q700X(6); standard; MUTATION; DEAH,DEAH
Accession B0109
Systematic name Allele 1 and 2: g.48915C>T, c.2098C>T, r.2098c>u, p.Gln700X
Original code BSR59 (Foundred 17)
Description Allele 1 and 2: A point mutation in the exon 9 leading to a
Description premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 48915
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2172
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 700
Feature /change: Q -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 48915
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2172
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 700
Feature /change: Q -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; Connecticut
//
ID Q700X(7),D1064V(1); standard; MUTATION; DEAH,RecQCt
Accession B0110
Systematic name Allele 1: g.48915C>T, c.2098C>T, r.2098c>u, p.Gln700X
Systematic name Allele 2: g.77934A>T, c.3191A>T, r.3191a>u, p.Asp1064Val
Original code BSR102 (Foundred 17)
Description Allele 1: A point mutation in the exon 9 leading to a
Description premature stop codon in the DEAH domain
Description Allele 2: A point mutation in the exon 16 leading to an
Description amino acid change in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 48915
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2172
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 700
Feature /change: Q -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 77934
Feature /change: a -> t
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 3265
Feature /codon: gat -> gtt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 1064
Feature /change: D -> V
Feature /domain: RecQCt
Ethnic origin Caucasoid; Italy (Sicily)
//
ID Q700X(8),#L1159X1164(1); standard; MUTATION; DEAH,IR5
Accession B0111
Systematic name Allele 1: g.48915C>T, c.2098C>T, r.2098c>u, p.Gln700X
Systematic name Allele 2: g.87233_87234delTT, c.3475_3476delTT,
Systematic name r.3475_3476deluu, p.Leu1159fsX6
Original code BSR103 (Foundred 17)
Description Allele 1: A point mutation in the exon 9 leading to a
Description premature stop codon in the DEAH domain
Description Allele 2: A frame shift deletion mutation in the exon 18
Description leading to a premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 48915
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2172
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 700
Feature /change: Q -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 87233..87234
Feature /change: -tt
Feature /genomic_region: exon; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3549..3550
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1159
Feature /change: L -> IYQCQX
Feature /domain: IR5
Ethnic origin Caucasoid; Italian (Sicilian); Switzerland
//
ID Q700X(9),Intron 16(1); standard; MUTATION; DEAH,
Accession B0112
Systematic name Allele 1: g.48915C>T, c.2098C>T, r.2098c>u, p.Gln700X
Systematic name Allele 2: g.IVS16+3A>T, c.3210+3A>T, r.3210+3a>u
Original code BSR134 (Foundred 17)
Description Allele 1: A point mutation in the exon 9 leading to a
Description premature stop codon in the DEAH domain
Description Allele 2: A point mutation in the intron 16 leading to an
Description amino acid change in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 48915
Feature /change: c -> t
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2172
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 700
Feature /change: Q -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 77956
Feature /change: a -> t
Feature /genomic_region: intron; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Caucasoid; Missouri
//
ID @Y736X740(1),@Y736X740(1); standard; MUTATION; DEAH,DEAH
Accession B0005
Original code 15(MaRo)
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 26-May-1999 (Rel. 1, Created)
Date 10-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Groden, J., Ye, T. Z., Straughen, J., Lennon,
RefAuthors D. J., Ciocci, S., Proytcheva, M., German, J.
RefTitle The Bloom's syndrome gene product is homologous to RecQ
RefTitle helicases
RefLoc Cell 83:655-666 (1995)
DB CrossRef OMIM; 210900.0001
DB CrossRef BS Registry; 15(MaRo)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Caucasoid;
//
ID @Y736X740(2),@Y736X740(2); standard; MUTATION; DEAH,DEAH
Accession B0010
Original code 42(RaFr)
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 26-May-1999 (Rel. 1, Created)
Date 10-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7585968
RefAuthors Ellis, N. A., Groden, J., Ye, T. Z., Straughen, J.,
RefAuthors Lennon, D. J., Ciocci, S., Proytcheva, M., German, J.
RefTitle The Bloom's syndrome gene product is homologous to RecQ
RefTitle helicases
RefLoc Cell 83:655-666 (1995)
DB CrossRef OMIM; 210900.0001
DB CrossRef BS Registry; 42(RaFr)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Caucasoid;
//
ID @Y736X740(3),@Y736X740(3); standard; MUTATION; DEAH,DEAH
Accession B0011
Original code 107(MyAsa)
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 26-May-1999 (Rel. 1, Created)
Date 10-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7585968
RefAuthors Ellis, N. A., Groden, J., Ye, T. Z., Straughen, J.,
RefAuthors Lennon, D. J., Ciocci, S., Proytcheva, M., German, J.
RefTitle The Bloom's syndrome gene product is homologous to RecQ
RefTitle helicases
RefLoc Cell 83:655-666 (1995)
RefNumber [2]
RefCrossRef PUBMED; 9062585
RefAuthors German J
RefTitle Bloom's syndrome. XX. The first 100 cancers
RefLoc Cancer Genet Cytogenet 93:100-106 (1997)
DB CrossRef OMIM; 210900.0001
DB CrossRef BS Registry; 107(MyAsa)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Symptoms Lymphoma, diffuse histolytic, tonsil at age 26
Symptoms Carcinoma, right breast at age 34
Symptoms Carcinoma, transverse colon at age 41
Symptoms Carcinoma, left breast at age 42
Symptoms Carcinoma, adeno, uterus at age 43
Ethnic origin Caucasoid;
//
ID @Y736X740(4),@Y736X740(4); standard; MUTATION; DEAH,DEAH
Accession B0012
Original code Nr2(CrSpe)
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 26-May-1999 (Rel. 1, Created)
Date 10-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7585968
RefAuthors Ellis, N. A., Groden, J., Ye, T. Z., Straughen, J.,
RefAuthors Lennon, D. J., Ciocci, S., Proytcheva, M., German, J.
RefTitle The Bloom's syndrome gene product is homologous to RecQ
RefTitle helicases
RefLoc Cell 83:655-666 (1995)
DB CrossRef OMIM; 210900.0001
DB CrossRef BS Registry; Nr2(CrSpe)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Caucasoid;
//
ID @Y736X740(5),@Y736X740(5); standard; MUTATION; DEAH,DEAH
Accession B0013
Original code 3
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 08-Jun-1999 (Rel. 1, Created)
Date 10-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Jun-1999) to the BLMbase
RefLoc Bloom's Syndrome Registry, NY Blood Center, 310 East 67th
RefLoc Street, New York NY 10021
DB CrossRef OMIM; 210900.0001
DB CrossRef BS Registry; 3
DB CrossRef Coriell Cell Repository; GM00811
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Sex XY
Age 4
Ethnic origin Caucasoid;
//
ID @Y736X740(6),@Y736X740(6); standard; MUTATION; DEAH,DEAH
Accession B0014
Original code 9(EmSh)
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 08-Jun-1999 (Rel. 1, Created)
Date 10-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Jun-1999) to the BLMbase
RefLoc Bloom's Syndrome Registry, NY Blood Center, 310 East 67th
RefLoc Street, New York NY 10021
RefNumber [2]
RefCrossRef PUBMED; 9062585
RefAuthors German J
RefTitle Bloom's syndrome. XX. The first 100 cancers
RefLoc Cancer Genet Cytogenet 93:100-106 (1997)
DB CrossRef OMIM; 210900.0001
DB CrossRef BS Registry; 9(EmSh)
DB CrossRef Coriell Cell Repository; GM03402; GM03403
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Symptoms Carcinoma, rectum at age 38
Symptoms Carsinoma, basal cell, eyelid at age 38
Sex XY
Age 30
Ethnic origin Caucasoid;
//
ID @Y736X740(7),@Y736X740(7); standard; MUTATION; DEAH,DEAH
Accession B0015
Original code 27
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 08-Jun-1999 (Rel. 1, Created)
Date 10-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Jun-1999) to the BLMbase
RefLoc Bloom's Syndrome Registry, NY Blood Center, 310 East 67th
RefLoc Street, New York NY 10021
DB CrossRef OMIM; 210900.0001
DB CrossRef BS Registry; 27
DB CrossRef Coriell Cell Repository; GM09960
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Sex XX
Age 22
Ethnic origin Caucasoid;
//
ID @Y736X740(8),@Y736X740(8); standard; MUTATION; DEAH,DEAH
Accession B0016
Original code 44(AbRu)
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 08-Jun-1999 (Rel. 1, Created)
Date 10-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Jun-1999) to the BLMbase
RefLoc Bloom's Syndrome Registry, NY Blood Center, 310 East 67th
RefLoc Street, New York NY 10021
DB CrossRef OMIM; 210900.0001
DB CrossRef BS Registry; 44(AbRu)
DB CrossRef Coriell Cell Repository; GM01492
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Sex XY
Age 15
Ethnic origin Caucasoid;
//
ID @Y736X740(9),@Y736X740(9); standard; MUTATION; DEAH,DEAH
Accession B0017
Original code 47
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 08-Jun-1999 (Rel. 1, Created)
Date 10-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Jun-1999) to the BLMbase
RefLoc Bloom's Syndrome Registry, NY Blood Center, 310 East 67th
RefLoc Street, New York NY 10021
DB CrossRef OMIM; 210900.0001
DB CrossRef BS Registry; 47
DB CrossRef Coriell Cell Repository; GM03510
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Sex XY
Age 20
Ethnic origin Caucasoid;
//
ID @Y736X740(10),@Y736X740(10); standard; MUTATION; DEAH,DEAH
Accession B0018
Original code 53
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 08-Jun-1999 (Rel. 1, Created)
Date 10-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Jun-1999) to the BLMbase
RefLoc Bloom's Syndrome Registry, NY Blood Center, 310 East 67th
RefLoc Street, New York NY 10021
DB CrossRef OMIM; 210900.0001
DB CrossRef BS Registry; 53
DB CrossRef Coriell Cell Repository; GM02085
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Sex XX
Age 2
Ethnic origin Caucasoid;
//
ID @Y736X740(11),#D1053X1077(1); standard; MUTATION; DEAH,RecQCt
Accession B0019
Original code 87(AlFra)
Systematic name Allele 1: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Systematic name Allele 2: g.77902delT, c.3159delT, r.3159delu,
Systematic name p.Cys1055fsX23
Description Allele 1: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 16 leading to a premature stop codon in the RecQCt domain
Date 08-Jun-1999 (Rel. 1, Created)
Date 10-May-2007 (Rel. 2, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (08-Jun-1999) to the BLMbase
RefLoc Bloom's Syndrome Registry, NY Blood Center, 310 East 67th
RefLoc Street, New York NY 10021
DB CrossRef OMIM; 210900.0001
DB CrossRef BS Registry; 87(AlFra)
DB CrossRef Coriell Cell Repository; GM03498
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 77902
Feature /change: -t
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3233
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1053
Feature /change: D -> DFVRNTQMFL VIIAVKQRII KQEMX
Feature /domain: RecQCt
Sex XX
Age 2
Ethnic origin Caucasoid;
//
ID @Y736X740(12),@Y736X740(12); standard; MUTATION; DEAH,DEAH
Accession B0036
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR14 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (New York)
//
ID @Y736X740(13),@Y736X740(13); standard; MUTATION; DEAH,DEAH
Accession B0037
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR16 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (New York)
//
ID @Y736X740(14),#F1087X1097(2); standard; MUTATION; DEAH,IR5
Accession B0038
Systematic name Allele 1: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Systematic name Allele 2: g.81836delT, c.3261delT, r.3261delu,
Systematic name p.Phe1087fsX11
Original code BSR26 (Foundred 1)
Description Allele 1: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Description Allele 2: A frame shift deletion mutation in the exon 17
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 81836
Feature /change: -t
Feature /genomic_region: exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3335
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1087
Feature /change: F -> LFKNIVHHKE X
Feature /domain: IR5
Ethnic origin Ashkenazi Jewish (Indiana)
Comment The father was Ashkenazi Jewish and the mother non-Jewish.
//
ID @Y736X740(15),@Y736X740(15); standard; MUTATION; DEAH,DEAH
Accession B0039
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR32 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (New Jersey)
//
ID @Y736X740(16),@Y736X740(16); standard; MUTATION; DEAH,DEAH
Accession B0040
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR34 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Illinois)
//
ID @Y736X740(17),@Y736X740(17); standard; MUTATION; DEAH,DEAH
Accession B0041
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR45 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Israel)
//
ID @Y736X740(18),Deletion(1); standard; MUTATION; DEAH,HRDC
Accession B0042
Systematic name Allele 1: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR50 (Foundred 1)
Description Allele 1: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Description Allele 2: Deletion of exons 20-22
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 20-22
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /loc: IDRefSeq: C0004: 3826..
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: the putative effect on the protein is p.Glu1251fs
Ethnic origin Ashkenazi Jewish (Ontario)
Comment The father was Ashkenazi Jewish and the mother non-Jewish.
//
ID @Y736X740(19),G891E(2); standard; MUTATION; DEAH,DEAH
Accession B0043
Systematic name Allele 1: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Systematic name Allele 2: g.68526G>A, c.2672G>A, r.2672g>a, p.Gly891Glu
Original code BSR54 (Foundred 1)
Description Allele 1: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Description Allele 2: A point mutation in the exon 14 leading to an
Description amino acid change in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68526
Feature /change: g -> a
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2746
Feature /codon: ggg -> gag; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 891
Feature /change: G -> E
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (New York)
Comment The father was Ashkenazi Jewish and the mother non-Jewish.
//
ID @Y736X740(20),@Y736X740(20); standard; MUTATION; DEAH,DEAH
Accession B0044
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR56 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Ohio)
//
ID @Y736X740(21),@Y736X740(21); standard; MUTATION; DEAH,DEAH
Accession B0045
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR57 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Israel)
//
ID @Y736X740(22),@Y736X740(22); standard; MUTATION; DEAH,DEAH
Accession B0046
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR79 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Connecticut)
Parents Consanguineous
//
ID @Y736X740(23),@Y736X740(23); standard; MUTATION; DEAH,DEAH
Accession B0047
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR106 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Florida)
//
ID @Y736X740(24),@Y736X740(24); standard; MUTATION; DEAH,DEAH
Accession B0048
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR119 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (New York)
//
ID @Y736X740(25),@Y736X740(25); standard; MUTATION; DEAH,DEAH
Accession B0049
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR121 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Israel)
//
ID Intron 2(1),@Y736X740(26); standard; MUTATION; ,DEAH
Accession B0050
Systematic name Allele 1: g.IVS2+1G>T, c.98+1G>T, r.98+1g>u
Systematic name Allele 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR126 (Foundred 1)
Description Allele 1: A point mutation in the intron 2 leading to an
Description amino acid change
Description Allele 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 31087
Feature /change: g -> t
Feature /genomic_region: intron; 2
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: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Jewish (Brazil)
Comment Father Jewish, but not Ashkenazi, mother Ashkenazi Jewish
//
ID @Y736X740(27),@W803X806(1); standard; MUTATION; DEAH,DEAH
Accession B0051
Systematic name Allele 1: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Systematic name Allele 2: g.53034dupT, c.2407dupT, r.2407dupu, p.Trp803fsX4
Original code BSR141 (Foundred 1/Foundred 2)
Description Allele 1: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Description Allele 2: A frame shift duplication mutation in the exon 12
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 53035
Feature /change: +t
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2482
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 803
Feature /change: W -> LGTX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Israel)
//
ID @Y736X740(28),@Y736X740(28); standard; MUTATION; DEAH,DEAH
Accession B0052
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR142 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Israel)
//
ID @Y736X740(29),@Y736X740(29); standard; MUTATION; DEAH,DEAH
Accession B0053
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR171 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (District of Columbia)
//
ID @Y736X740(30),@Y736X740(30); standard; MUTATION; DEAH,DEAH
Accession B0054
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR172 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Michigan)
//
ID @Y736X740(31),@Y736X740(31); standard; MUTATION; DEAH,DEAH
Accession B0055
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR178 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (New York)
//
ID @Y736X740(32),@Y736X740(32); standard; MUTATION; DEAH,DEAH
Accession B0056
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR182 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Belgium)
//
ID @Y736X740(33),Y1170X(1); standard; MUTATION; DEAH,IR5
Accession B0057
Systematic name Allele 1: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Systematic name Allele 2: g.87268T>A, c.3510T>A, r.3510u>a, p.Tyr1170X
Original code BSR225 (Foundred 1)
Description Allele 1: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Description Allele 2: A point mutation in the exon 18 leading to a
Description premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 87268
Feature /change: t -> a
Feature /genomic_region: exon; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 3584
Feature /codon: tat -> taa; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1170
Feature /change: Y -> X
Feature /domain: IR5
Ethnic origin Ashkenazi Jewish (Minnesota)
Comment The father was Ashkenazi Jewish and the mother non-Jewish.
//
ID @Y736X740(34),@W803X806(2); standard; MUTATION; DEAH,DEAH
Accession B0058
Systematic name Allele 1: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Systematic name Allele 2: g.53034dupT, c.2407dupT, r.2407dupu, p.Trp803fsX4
Original code BSR237 (Foundred 1/Foundred 2)
Description Allele 1: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Description Allele 2: A frame shift duplication mutation in the exon 12
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 53035
Feature /change: +t
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2482
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 803
Feature /change: W -> LGTX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (New York)
//
ID @Y736X740(35),@Y736X740(35); standard; MUTATION; DEAH,DEAH
Accession B0059
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR238 (Foundred 1)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Ashkenazi Jewish (Israel)
//
ID @Y736X740(36),@Y736X740(36); standard; MUTATION; DEAH,DEAH
Accession B0060
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR127 (Foundred 3)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Spahish via Mexico (Colorado)
Parents Consanguineous
//
ID @Y736X740(37),#R836X853(1); standard; MUTATION; DEAH,DEAH
Accession B0061
Systematic name Allele 1: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Systematic name Allele 2: g.53133_53134delAG, c.2506_2507delAG,
Systematic name r.2506_2507delag, p.Arg836fsX18
Original code BSR130 (Foundred 3/Foundred 4)
Description Allele 1: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Description Allele 2: A frame shift deletion mutation in the exon 12
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 53133..53134
Feature /change: -ag
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2580..2581
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 836
Feature /change: R -> GTEGHPDSAE DSQTSGVX
Feature /domain: DEAH
Ethnic origin Mexican, Texan, New Mexican (Utah)
//
ID @Y736X740(38),@Y736X740(38); standard; MUTATION; DEAH,DEAH
Accession B0062
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR179 (Foundred 3)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin Spanish ancestry (Mexico)
//
ID @Y736X740(39),C1066Y(1); standard; MUTATION; DEAH,RecQCt
Accession B0063
Systematic name Allele 1: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Systematic name Allele 2: g.77940G>A, c.3197G>A, r.3197g>a, p.Cys1066Tyr
Original code BSR197 (Foundred 3)
Description Allele 1: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Description Allele 2: A point mutation in the exon 16 leading to an
Description amino acid change in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 77940
Feature /change: g -> a
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 3271
Feature /codon: tgc -> tac; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 1066
Feature /change: C -> Y
Feature /domain: RecQCt
Ethnic origin El Salvadoran/Ecuadoran (Texas)
//
ID @Y736X740(40),@Y736X740(40); standard; MUTATION; DEAH,DEAH
Accession B0064
Systematic name Allele 1 and 2: g.50519_50524delinsTAGATTC,
Systematic name c.2207_2212delinsTAGATTC, r.2207_2212delinsuagauuc,
Systematic name p.Tyr736fsX5
Original code BSR200 (Foundred 3)
Description Allele 1 and 2: A frame shift indel mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: indel
Feature /loc: IDRefSeq: D0004: 50519..50524
Feature /change: atctga -> tagattc
Feature /genomic_region: exon; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2281..2286
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 736..738
Feature /change: YLT -> LDSRX
Feature /domain: DEAH
Ethnic origin El Salvadoran (Maryland)
//
ID @L751X775(2),#F1087X1097(5); standard; MUTATION; DEAH,IR5
Accession B0101
Systematic name Allele 1: g.50562_50563insAAAT, c.2250_2251insAAAT,
Systematic name r.2250_2251insaaau, p.Leu751fsX25
Systematic name Allele 2: g.81836delT, c.3261delT, r.3261delu,
Systematic name p.Phe1087fsX11
Original code BSR194 (Foundred 10/Foundred 15)
Description Allele 1: A frame shift insertion mutation in the exon 10
Description leading to a premature stop codon in the DEAH domain
Description Allele 2: A frame shift deletion mutation in the exon 17
Description leading to a premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0004: 50563
Feature /change: +aaat
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2325
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 751
Feature /change: L -> KSPVIKKRPN HKTSICHSRK DLCKX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 81836
Feature /change: -t
Feature /genomic_region: exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3335
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1087
Feature /change: F -> LFKNIVHHKE X
Feature /domain: IR5
Ethnic origin Caucasoid; California
//
ID @T830X834(1),#K1227X1278(1); standard; MUTATION; DEAH,HRDC
Accession B0126
Systematic name Allele 1: g.53115dupA, c.2488dupA, r.2488dupa, p.Thr830fsX5
Systematic name Allele 2: g.87885delA, c.3681delA, r.3681dela,
Systematic name p.Lys1227fsX52
Original code BSR65
Description Allele 1: A frame shift duplication mutation in the exon 12
Description leading to a premature stop codon in the DEAH domain
Description Allele 2: A frame shift deletion mutation in the exon 19
Description leading to a premature stop codon in the DEAH domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 53116
Feature /change: +a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2563
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 830
Feature /change: T -> NGHSX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 87885
Feature /change: -a
Feature /genomic_region: exon; 19
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3755
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1227
Feature /change: K ->
Feature /change: NLWGKFLVSI TSIFLIPSLS RSLQNLYLLI LRFCFKLMVL
Feature /change: LKTNWKNMVR KX
Feature /domain: HRDC
Ethnic origin Caucasoid; Dutch
//
ID #R836X853(2),#R836X853(2); standard; MUTATION; DEAH,DEAH
Accession B0065
Systematic name Allele 1 and 2: g.53133_53134delAG, c.2506_2507delAG,
Systematic name r.2506_2507delag, p.Arg836fsX18
Original code BSR173 (Foundred 4)
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon in the DEAH domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 53133..53134
Feature /change: -ag
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2580..2581
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 836
Feature /change: R -> GTEGHPDSAE DSQTSGVX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 53133..53134
Feature /change: -ag
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2580..2581
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 836
Feature /change: R -> GTEGHPDSAE DSQTSGVX
Feature /domain: DEAH
Ethnic origin Spanish ancestry (Mexico)
//
ID I841T(1),I841T(1); standard; MUTATION; DEAH,DEAH
Accession B0021
Original code 92(VaBi)
Description Allele 1 and 2; point mutation leading to amino acid
Description substitution in DEAH helicase domain
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7585968
RefAuthors Ellis, N. A., Groden, J., Ye, T. Z., Straughen, J.,
RefAuthors Lennon, D. J., Ciocci, S., Proytcheva, M., German, J.
RefTitle The Bloom's syndrome gene product is homologous to RecQ
RefTitle helicases
RefLoc Cell 83:655-666 (1995)
DB CrossRef OMIM; 210900.0003
DB CrossRef BS Registry; 92(VaBi)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: point
Feature /change: t -> c
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2596
Feature /codon: atc -> acc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 841
Feature /change: I -> T
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink; 5
Feature /name: point
Feature /change: t -> c
Feature rna; 5
Feature /dnalink; 4
Feature /aalink; 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2596
Feature /codon: atc -> acc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 841
Feature /change: I -> T
Feature /domain: DEAH
Ethnic origin Caucasoid;
//
ID C878R(1),C878R(1); standard; MUTATION; DEAH,DEAH
Accession B0033
Description Allele 1 and 2; point mutation leading to amino acid
Description substitution in DEAH helicase domain
Date 25-Oct-2000 (Rel. 1, Created)
Date 25-Oct-2000 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10862105
RefCrossRef Human Mutation,
RefCrossRef Mutation and Polymorphism Report #129 (2000) Online
RefAuthors Barakat, A., Ababou, M., Onclercq, R., Dutertre, S.,
RefAuthors Chadli, E., Hda, N., Benslimane, A., Amor-Gueret, M.
RefTitle Identification of a novel BLM missense mutation (2706T>C)
RefTitle in a Moroccan patient with Bloom's syndrome
RefLoc Hum. Mutat. 15:584-585(2000)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: point
Feature /change: t -> c
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2706
Feature /codon: tgc -> cgc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 878
Feature /change: C -> R
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink; 5
Feature /name: point
Feature /change: t -> c
Feature rna; 5
Feature /dnalink; 4
Feature /aalink; 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2706
Feature /codon: tgc -> cgc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 878
Feature /change: C -> R
Feature /domain: DEAH
Ethnic origin Morocco
//
ID W881X(1),W881X(1); standard; MUTATION; DEAH,DEAH
Accession B0133
Systematic name Allele 1 and 2: g.66505G>A, c.2643G>A, r.2643g>a, p.Trp881X
Original code BSR149
Description Allele 1 and 2: A point mutation in the exon 13 leading to
Description a premature stop codon in the DEAH domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 66505
Feature /change: g -> a
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2717
Feature /codon: tgg -> tga; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 881
Feature /change: W -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 66505
Feature /change: g -> a
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2717
Feature /codon: tgg -> tga; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 881
Feature /change: W -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; Turkish
Parents Consanguineous
//
ID G891E(1),?; preliminary; MUTATION; DEAH
Accession B0022
Description Allele 1; missense mutation leading to amino acid change
Description in DEAH helicase domain
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Giocci, S., Ye, T., Neff, N., German, J.
RefTitle Mutational analysis of the BLM gene in
RefTitle non-Ashkenazi-Jewish persons with Bloom's syndrome
RefLoc (in) Byers, P. H.(Ed.), The American Journal of Human
RefLoc Genetics, Program and abstracts of 1997 annual meeting,
RefLoc vol. 61(4) Suppl., Posters: Molecular Basis of Mendelian
RefLoc Disorders, Abs. 1943, p. A332, The Lund University Chicago
RefLoc press, (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: missense
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 891
Feature /change: G -> E
Feature /domain: DEAH
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
//
ID R899X(1),?; premilinary; MUTATION; DEAH
Accession B0028
Description Allele 1; nonsense mutation leading to stop codon and
Description premature termination in DEAH helicase domain
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Giocci, S., Ye, T., Neff, N., German, J.
RefTitle Mutational analysis of the BLM gene in
RefTitle non-Ashkenazi-Jewish persons with Bloom's syndrome
RefLoc (in) Byers, P. H.(Ed.), The American Journal of Human
RefLoc Genetics, Program and abstracts of 1997 annual meeting,
RefLoc vol. 61(4) Suppl., Posters: Molecular Basis of Mendelian
RefLoc Disorders, Abs. 1943, p. A332, The Lund University Chicago
RefLoc press, (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: nonsense
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
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
//
ID R899X(4),R899X(4); standard; MUTATION; DEAH,DEAH
Accession B0088
Systematic name Allele 1 and 2: g.68549C>T, c.2695C>T, r.2695c>u, p.Arg899X
Original code BSR21 (Foundred 8)
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description a premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; California
Parents Consanguineous
//
ID R899X(5),#D1010X1033(1); standard; MUTATION; DEAH,RecQCt
Accession B0089
Systematic name Allele 1: g.68549C>T, c.2695C>T, r.2695c>u, p.Arg899X
Systematic name Allele 2: g.77771delG, c.3028delG, r.3028delg,
Systematic name p.Asp1010fsX24
Original code BSR30 (Foundred 8/Foundred 11)
Description Allele 1: A point mutation in the exon 14 leading to a
Description premature stop codon in the DEAH domain
Description Allele 2: A frame shift deletion mutation in the exon 16
Description leading to a premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 77771
Feature /change: -g
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3102
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1010
Feature /change: D -> METIIQEKLT SIICIAWYIT VKIX
Feature /domain: RecQCt
Ethnic origin Caucasoid; Germany
Parents Consanguineous
//
ID R899X(6),R1139X(1); standard; MUTATION; DEAH,IR5
Accession B0090
Systematic name Allele 1: g.68549C>T, c.2695C>T, r.2695c>u, p.Arg899X
Systematic name Allele 2: g.87173C>T, c.3415C>T, r.3415c>u, p.Arg1139X
Original code BSR109 (Foundred 8)
Description Allele 1: A point mutation in the exon 14 leading to a
Description premature stop codon in the DEAH domain
Description Allele 2: A point mutation in the exon 18 leading to a
Description premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 87173
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 3489
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1139
Feature /change: R -> X
Feature /domain: IR5
Ethnic origin Caucasoid; New York
//
ID R899X(8),R899X(8); standard; MUTATION; DEAH,DEAH
Accession B0092
Systematic name Allele 1 and 2: g.68549C>T, c.2695C>T, r.2695c>u, p.Arg899X
Original code BSR136 (Foundred 8)
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description a premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; Maryland
//
ID R899X(9),R899X(9); standard; MUTATION; DEAH,DEAH
Accession B0093
Systematic name Allele 1 and 2: g.68549C>T, c.2695C>T, r.2695c>u, p.Arg899X
Original code BSR185 (Foundred 8)
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description a premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; El Salvadoran (Ontario)
//
ID R899X(10),R899X(10); standard; MUTATION; DEAH,DEAH
Accession B0094
Systematic name Allele 1 and 2: g.68549C>T, c.2695C>T, r.2695c>u, p.Arg899X
Original code BSR191 (Foundred 8)
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description a premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; South Carolina
//
ID C901Y(1),?; preliminary; MUTATION; DEAH
Accession B0023
Description Allele 1; missense mutation leading to amino acid change
Description in DEAH helicase domain
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Giocci, S., Ye, T., Neff, N., German, J.
RefTitle Mutational analysis of the BLM gene in
RefTitle non-Ashkenazi-Jewish persons with Bloom's syndrome
RefLoc (in) Byers, P. H.(Ed.), The American Journal of Human
RefLoc Genetics, Program and abstracts of 1997 annual meeting,
RefLoc vol. 61(4) Suppl., Posters: Molecular Basis of Mendelian
RefLoc Disorders, Abs. 1943, p. A332, The Lund University Chicago
RefLoc press, (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: missense
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 901
Feature /change: C -> Y
Feature /domain: DEAH
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
//
ID C901Y(2),C901Y(2); standard; MUTATION; DEAH,DEAH
Accession B0125
Systematic name Allele 1 and 2: g.68556G>A, c.2702G>A, r.2702g>a,
Systematic name p.Cys901Tyr
Original code BSR40
Description Allele 1 and 2: A point mutation in the exon 14 leading to
Description an amino acid change in the DEAH domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68556
Feature /change: g -> a
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2776
Feature /codon: tgt -> tat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 901
Feature /change: C -> Y
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68556
Feature /change: g -> a
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2776
Feature /codon: tgt -> tat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 901
Feature /change: C -> Y
Feature /domain: DEAH
Ethnic origin Caucasoid; N. American
//
ID Q941X(1),C1036F(2); standard; MUTATION; DEAH,RecQCt
Accession B0146
Systematic name Allele 1: g.68675C>T, c.2821C>T, r.2821c>u, p.Gln941X
Systematic name Allele 2: g.77850G>T, c.3107G>T, r.3107g>u, p.Cys1036Phe
Original code IC-I1
Description Allele 1: A point mutation in the exon 14 leading to a
Description premature stop codon in the DEAH domain
Description Allele 2: A point mutation in the exon 16 leading to an
Description amino acid change in the RecQCt domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18471088
RefAuthors Amor-Gueret, M., Dubois-d'Enghien, C., Lauge, A., Onclercq-
RefAuthors Delic, R., Barakat, A., Chadli, E., Bousfiha, A. A.,
RefAuthors Benjelloun, M., Flori, E., Doray, B., Laugel, V.,
RefAuthors Lourenxo, M. T., Gonxalves, R., Sousa, S., Couturier, J.,
RefAuthors Stoppa-Lyonnet, D.
RefTitle Three new BLM gene mutations associated with bloom
RefTitle syndrome.
RefLoc Genet Test:257-261 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68675
Feature /change: c -> t
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004; GI:1705486; BLMC: 2895
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: BLM_HUMAN: 941
Feature /change: Q -> X
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 77850
Feature /change: g -> t
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004; GI:1705486; BLMC: 3181
Feature /codon: tgc -> ttc; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISS-PROT: BLM_HUMAN: 1036
Feature /change: C -> F
Feature /domain: RecQCt
Symptoms Pigmentation spots on the body; Ocular telangiectasia;
Age 1
Sex XX
Parents Non-consanguineous
//
ID G952V(1),G952V(1); standard; MUTATION; DEAH,DEAH
Accession B0142
Systematic name Allele 1 and 2: g.74276G>T, c.2855G>T, r.2855g>u,
Systematic name p.Gly952Val
Original code BSR223
Description Allele 1 and 2: A point mutation in the exon 15 leading to
Description an amino acid change in the DEAH domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 74276
Feature /change: g -> t
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2929
Feature /codon: ggg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 952
Feature /change: G -> V
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 74276
Feature /change: g -> t
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2929
Feature /codon: ggg -> gtg; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 952
Feature /change: G -> V
Feature /domain: DEAH
Ethnic origin Caucasoid; Italian
//
ID H963Y(1),H963Y(1); standard; MUTATION; DEAH,DEAH
Accession B0132
Systematic name Allele 1 and 2: g.74308C>T, c.2887C>T, r.2887c>u,
Systematic name p.His963Tyr
Original code BSR123
Description Allele 1 and 2: A point mutation in the exon 15 leading to
Description an amino acid change in the DEAH domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 74308
Feature /change: c -> t
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2961
Feature /codon: cat -> tat; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 963
Feature /change: H -> Y
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 74308
Feature /change: c -> t
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 2961
Feature /codon: cat -> tat; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 963
Feature /change: H -> Y
Feature /domain: DEAH
Ethnic origin Caucasoid; Mestiza
//
ID #Y974X998(1),?; premilinary; MUTATION; DEAH
Accession B0030
Description Allele 1; deletion leading to frameshift and premature
Description termination in DEAH helicase domain
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Giocci, S., Ye, T., Neff, N., German, J.
RefTitle Mutational analysis of the BLM gene in
RefTitle non-Ashkenazi-Jewish persons with Bloom's syndrome
RefLoc (in) Byers, P. H.(Ed.), The American Journal of Human
RefLoc Genetics, Program and abstracts of 1997 annual meeting,
RefLoc vol. 61(4) Suppl., Posters: Molecular Basis of Mendelian
RefLoc Disorders, Abs. 1943, p. A332, The Lund University Chicago
RefLoc press, (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: deletion
Feature /change: -c
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2996
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 974
Feature /change: Y -> YKNLAELEEM GKYLTACFSI PIMMX
Feature /domain: DEAH
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
//
ID #Q975X998(3),#Q975X998(3); standard; MUTATION; DEAH,DEAH
Accession B0096
Systematic name Allele 1 and 2: g.74344delC, c.2923delC, r.2923delc,
Systematic name p.Gln975fsX24
Original code BSR69 (Foundred 9)
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 15 leading to a premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 74344
Feature /change: -c
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2997
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 975
Feature /change: Q -> KNLAELEEMG KYLTACFSIP IMMX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 74344
Feature /change: -c
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2997
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 975
Feature /change: Q -> KNLAELEEMG KYLTACFSIP IMMX
Feature /domain: DEAH
Ethnic origin Caucasoid; Washington
//
ID #Q975X998(4),#Q975X998(4); standard; MUTATION; DEAH,DEAH
Accession B0097
Systematic name Allele 1 and 2: g.74344delC, c.2923delC, r.2923delc,
Systematic name p.Gln975fsX24
Original code BSR137 (Foundred 9)
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 15 leading to a premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 74344
Feature /change: -c
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2997
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 975
Feature /change: Q -> KNLAELEEMG KYLTACFSIP IMMX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 74344
Feature /change: -c
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2997
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 975
Feature /change: Q -> KNLAELEEMG KYLTACFSIP IMMX
Feature /domain: DEAH
Ethnic origin Caucasoid; Australia
//
ID #Q975X998(6),#Q975X998(6); standard; MUTATION; DEAH,DEAH
Accession B0099
Systematic name Allele 1 and 2: g.74344delC, c.2923delC, r.2923delc,
Systematic name p.Gln975fsX24
Original code BSR176 (Foundred 9)
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 15 leading to a premature stop codon in the DEAH domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 74344
Feature /change: -c
Feature /genomic_region: exon; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2997
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 975
Feature /change: Q -> KNLAELEEMG KYLTACFSIP IMMX
Feature /domain: DEAH
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 74344
Feature /change: -c
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2997
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 975
Feature /change: Q -> KNLAELEEMG KYLTACFSIP IMMX
Feature /domain: DEAH
Ethnic origin Caucasoid; French Canadian (Quebec)
Parents Consanguineous
//
ID #D1010X1033(2),#D1010X1033(2); standard; MUTATION; RecQCt,RecQCt
Accession B0102
Systematic name Allele 1 and 2: g.77771delG, c.3028delG, r.3028delg,
Systematic name p.Asp1010fsX24
Original code BSR52 (Foundred 11)
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 16 leading to a premature stop codon in the RecQCt domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 77771
Feature /change: -g
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3102
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1010
Feature /change: D -> METIIQEKLT SIICIAWYIT VKIX
Feature /domain: RecQCt
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 77771
Feature /change: -g
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3102
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1010
Feature /change: D -> METIIQEKLT SIICIAWYIT VKIX
Feature /domain: RecQCt
Ethnic origin Caucasoid; Germany
//
ID C1036F(1),?; standard; MUTATION; RecQCt
Accession B0007
Original code PuCh
Description Allele 1; point mutation leading to amino acid
Description substitution in RecQ Ct domain
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 9285778
RefAuthors Foucault, F., Vaury, C., Barakat, A., Thibout, D.,
RefAuthors Planchon, P., Jaulin, C., Praz, F., Amor-Gu?ret, M.
RefTitle Characterization of a new BLM mutation associated with
RefTitle a topoisomerase II alpha defect in a patient with Bloom's
RefTitle syndrome
RefLoc Hum. Mol. Genet. 6:1427-1434 (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: point
Feature /change: g -> t
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 3181
Feature /codon: tgc -> ttc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 1036
Feature /change: C -> F
Feature /domain: RecQCt
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
Ethnic origin Caucasoid; Italian
Family history inherited
//
ID Q1040X(1),Q1040X(1); standard; MUTATION; RecQCt,RecQCt
Accession B0123
Systematic name Allele 1 and 2: g.77861C>T, c.3118C>T, r.3118c>u,
Systematic name p.Gln1040X
Original code BSR10
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description a premature stop codon in the RecQCt domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 77861
Feature /change: c -> t
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 3192
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1040
Feature /change: Q -> X
Feature /domain: RecQCt
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 77861
Feature /change: c -> t
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 3192
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1040
Feature /change: Q -> X
Feature /domain: RecQCt
Ethnic origin Caucasoid; N. American
Parents Consanguineous
//
ID #F1050X1077(1),?; premilinary; MUTATION; RecQCt
Accession B0031
Description Allele 1; deletion leading to frameshift and premature
Description termination in RecQ C-terminal region
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Giocci, S., Ye, T., Neff, N., German, J.
RefTitle Mutational analysis of the BLM gene in
RefTitle non-Ashkenazi-Jewish persons with Bloom's syndrome
RefLoc (in) Byers, P. H.(Ed.), The American Journal of Human
RefLoc Genetics, Program and abstracts of 1997 annual meeting,
RefLoc vol. 61(4) Suppl., Posters: Molecular Basis of Mendelian
RefLoc Disorders, Abs. 1943, p. A332, The Lund University Chicago
RefLoc press, (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: deletion
Feature /change: -t
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3223
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1050
Feature /change: F -> LILIFVRNTQ MFLVIIAVKQR IIKQEMX
Feature /domain: RecQCt
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
//
ID C1055S(1),C1055S(1); standard; MUTATION; RecQCt,RecQCt
Accession B0006
Original code 113(DaDem)
Description Allele 1 and 2; point mutation leading to amino acid
Description substitution in RecQ Ct domain
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 7585968
RefAuthors Ellis, N. A., Groden, J., Ye, T. Z., Straughen, J.,
RefAuthors Lennon, D. J., Ciocci, S., Proytcheva, M., German, J.
RefTitle The Bloom's syndrome gene product is homologous to RecQ
RefTitle helicases
RefLoc Cell 83:655-666 (1995)
DB CrossRef BS Registry; 113(DaDem)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: point
Feature /change: g -> c
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 3238
Feature /codon: tgt -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 1055
Feature /change: C -> S
Feature /domain: RecQCt
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink; 5
Feature /name: point
Feature /change: g -> c
Feature rna; 5
Feature /dnalink; 4
Feature /aalink; 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 3238
Feature /codon: tgt -> tct; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 1055
Feature /change: C -> S
Feature /domain: RecQCt
Ethnic origin Caucasoid;
//
ID C1055S(3),C1055S(3); standard; MUTATION; RecQCt,RecQCt
Accession B0114
Systematic name Allele 1 and 2: g.77907G>C, c.3164G>C, r.3164g>c,
Systematic name p.Cys1055Ser
Original code BSR113 (Foundred 18)
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change in the RecQCt domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 77907
Feature /change: g -> c
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 3238
Feature /codon: tgt -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 1055
Feature /change: C -> S
Feature /domain: RecQCt
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 77907
Feature /change: g -> c
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 3238
Feature /codon: tgt -> tct; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 1055
Feature /change: C -> S
Feature /domain: RecQCt
Ethnic origin Caucasoid; Italian (New York)
Parents Consanguineous
//
ID C1055S(4),C1055S(4); standard; MUTATION; RecQCt,RecQCt
Accession B0115
Systematic name Allele 1 and 2: g.77907G>C, c.3164G>C, r.3164g>c,
Systematic name p.Cys1055Ser
Original code BSR222 (Foundred 18)
Description Allele 1 and 2: A point mutation in the exon 16 leading to
Description an amino acid change in the RecQCt domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 77907
Feature /change: g -> c
Feature /genomic_region: exon; 16
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 3238
Feature /codon: tgt -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 1055
Feature /change: C -> S
Feature /domain: RecQCt
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 77907
Feature /change: g -> c
Feature /genomic_region: exon; 16
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0004: 3238
Feature /codon: tgt -> tct; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P54132; BLM_HUMAN: 1055
Feature /change: C -> S
Feature /domain: RecQCt
Ethnic origin Caucasoid; Italy
//
ID @R1086X(1),@R1086X(1); standard; MUTATION; IR5,IR5
Accession B0134
Systematic name Allele 1 and 2: g.81830_81831insT, c.3255_3256insT,
Systematic name r.3255_3256insu, p.Arg1086X
Original code BSR166
Description Allele 1 and 2: An insertion mutation in the exon 17
Description leading to a premature stop codon in the IR5 domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: insertion
Feature /loc: IDRefSeq: D0004: 81831
Feature /change: +t
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 3330
Feature /codon: aga -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1086
Feature /change: R -> X
Feature /domain: IR5
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: insertion
Feature /loc: IDRefSeq: D0004: 81831
Feature /change: +t
Feature /genomic_region: exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 3330
Feature /codon: aga -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1086
Feature /change: R -> X
Feature /domain: IR5
Ethnic origin Caucasoid; Tunisian
Parents Consanguineous
//
ID #F1087X1097(1),?; premilinary; MUTATION; IR5
Accession B0032
Description Allele 1; deletion leading to frameshift and premature
Description termination in intervening region 5
Description Allele 2; unknown
Date 26-May-1999 (Rel. 1, Created)
Date 26-May-1999 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Ellis, N. A., Giocci, S., Ye, T., Neff, N., German, J.
RefTitle Mutational analysis of the BLM gene in
RefTitle non-Ashkenazi-Jewish persons with Bloom's syndrome
RefLoc (in) Byers, P. H.(Ed.), The American Journal of Human
RefLoc Genetics, Program and abstracts of 1997 annual meeting,
RefLoc vol. 61(4) Suppl., Posters: Molecular Basis of Mendelian
RefLoc Disorders, Abs. 1943, p. A332, The Lund University Chicago
RefLoc press, (1997)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink; 2
Feature /name: deletion
Feature /change: -t
Feature rna; 2
Feature /dnalink; 1
Feature /aalink; 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3333
Feature aa; 3
Feature /rnalink: 2
Feature /name: premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1087
Feature /change: F -> LFKNIVHHKE X
Feature /domain: IR5
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
//
ID #F1087X1097(4),#F1087X1097(4); standard; MUTATION; IR5,IR5
Accession B0100
Systematic name Allele 1 and 2: g.81836delT, c.3261delT, r.3261delu,
Systematic name p.Phe1087fsX11
Original code BSR22 (Foundred 10)
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 17 leading to a premature stop codon in the IR5 domain
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 81836
Feature /change: -t
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3335
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1087
Feature /change: F -> LFKNIVHHKE X
Feature /domain: IR5
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 81836
Feature /change: -t
Feature /genomic_region: exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3335
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1087
Feature /change: F -> LFKNIVHHKE X
Feature /domain: IR5
Ethnic origin Caucasoid; Illinois
Parents Consanguineous
//
ID S1093X(1),S1093X(1); standard; MUTATION; IR5,IR5
Accession B0140
Systematic name Allele 1 and 2: g.81853C>G, c.3278C>G, r.3278c>g,
Systematic name p.Ser1093X
Original code BSR215
Description Allele 1 and 2: A point mutation in the exon 17 leading to
Description a premature stop codon in the IR5 domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 81853
Feature /change: c -> g
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 3352
Feature /codon: tca -> tga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1093
Feature /change: S -> X
Feature /domain: IR5
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 81853
Feature /change: c -> g
Feature /genomic_region: exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 3352
Feature /codon: tca -> tga; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1093
Feature /change: S -> X
Feature /domain: IR5
Ethnic origin Caucasoid; Brazilian
//
ID #S1196X1198(1),Deletion(4); standard; MUTATION; IR5,HRDC
Accession B0068
Systematic name Allele 1: g.87791delG, c.3587delG, r.3587delg,
Systematic name p.Ser1196fsX3
Original code BSR216 (Foundred 5/Foundred 6)
Description Allele 1: A frame shift deletion mutation in the exon 19
Description leading to a premature stop codon in the IR5 domain
Description Allele 2: Deletion of exons 20-22
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 87791
Feature /change: -g
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3661
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1196
Feature /change: S -> TVX
Feature /domain: IR5
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 20-22
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /loc: IDRefSeq: C0004: 3826..
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: the putative effect on the protein is p.Glu1251fs
Ethnic origin Caucasoid; Brazilian
//
ID #S1196X1198(2),#S1196X1198(2); standard; MUTATION; IR5,IR5
Accession B0069
Systematic name Allele 1 and 2: g.87791delG, c.3587delG, r.3587delg,
Systematic name p.Ser1196fsX3
Original code BSR217 (Foundred 6)
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 19 leading to a premature stop codon in the IR5 domain
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 87791
Feature /change: -g
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3661
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1196
Feature /change: S -> TVX
Feature /domain: IR5
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 87791
Feature /change: -g
Feature /genomic_region: exon; 19
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3661
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1196
Feature /change: S -> TVX
Feature /domain: IR5
Ethnic origin Caucasoid; Brazilian
Parents Consanguineous
//
ID #S1196X1198(3),#S1196X1198(3); standard; MUTATION; IR5,IR5
Accession B0145
Systematic name Allele 1 and 2: g.87791delG, c.3587delG, r.3587delg,
Systematic name p.Ser1196fsX3
Original code IC-P1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 19 leading to a premature stop codon in the IR5 domain
Date 15-Jul-2010 (Rel. 1, Created)
Date 15-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18471088
RefAuthors Amor-Gueret, M., Dubois-d'Enghien, C., Lauge, A., Onclercq-
RefAuthors Delic, R., Barakat, A., Chadli, E., Bousfiha, A. A.,
RefAuthors Benjelloun, M., Flori, E., Doray, B., Laugel, V.,
RefAuthors Lourenxo, M. T., Gonxalves, R., Sousa, S., Couturier, J.,
RefAuthors Stoppa-Lyonnet, D.
RefTitle Three new BLM gene mutations associated with bloom
RefTitle syndrome.
RefLoc Genet Test:257-261 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 87791
Feature /change: -g
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004; GI:1705486; BLMC: 3661
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: BLM_HUMAN: 1196
Feature /change: S -> TVX
Feature /domain: IR5
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 87791
Feature /change: -g
Feature /genomic_region: exon; 19
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004; GI:1705486; BLMC: 3661
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISS-PROT: BLM_HUMAN: 1196
Feature /change: S -> TVX
Feature /domain: IR5
Symptoms Pigmentation spots on the body; Respiratory tract
Symptoms infections; Sun-sensitive erythema
Age 28
Sex XX
Parents Consanguineous
//
ID @T1243X1256(1),@T1243X1256(1); standard; MUTATION; HRDC,HRDC
Accession B0130
Systematic name Allele 1 and 2: g.87931dupA, c.3727dupA, r.3727dupa,
Systematic name p.Thr1243fsX14
Original code BSR104
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 19 leading to a premature stop codon in the HRDC
Description domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 87932
Feature /change: +a
Feature /genomic_region: exon; 19
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3802
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1243
Feature /change: T -> NRHSQEACRI FIFX
Feature /domain: HRDC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0004: 87932
Feature /change: +a
Feature /genomic_region: exon; 19
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3802
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1243
Feature /change: T -> NRHSQEACRI FIFX
Feature /domain: HRDC
Ethnic origin Caucasoid; German
//
ID Q1283X(1),Q1283X(1); standard; MUTATION; HRDC,HRDC
Accession B0122
Systematic name Allele 1 and 2: g.92828C>T, c.3847C>T, r.3847c>u,
Systematic name p.Gln1283X
Original code BSR7
Description Allele 1 and 2: A point mutation in the exon 20 leading to
Description a premature stop codon in the HRDC domain
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 92828
Feature /change: c -> t
Feature /genomic_region: exon; 20
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 3921
Feature /codon: cag -> tag; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1283
Feature /change: Q -> X
Feature /domain: HRDC
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 92828
Feature /change: c -> t
Feature /genomic_region: exon; 20
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 3921
Feature /codon: cag -> tag; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 1283
Feature /change: Q -> X
Feature /domain: HRDC
Ethnic origin Caucasoid; Italian
Parents Consanguineous
//
ID Intron 9(1),?; standard; MUTATION;
Accession B0138
Systematic name Allele 1: g.IVS9+2T>G, c.2193+2T>G, r.2193+2u>g
Original code BSR205
Description Allele 1: A point mutation in the intron 9 leading to
Description an amino acid change
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 49012
Feature /change: t -> g
Feature /genomic_region: intron; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Caucasoid; Welsh
//
ID Intron 11(1),?; standard; MUTATION;
Accession B0141
Systematic name Allele 1: g.IVS11+2T>G, c.2406+2T>G, r.2406+2u>g
Original code BSR218
Description Allele 1: A point mutation in the intron 11 leading
Description to an amino acid change
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 52829
Feature /change: t -> g
Feature /genomic_region: intron; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +2
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Caucasoid; Portuguese
//
ID Intron 18(1),Intron 18(1); standard; MUTATION;
Accession B0137
Systematic name Allele 1 and 2: g.IVS18+1G>A, c.3558+1G>A, r.3558+1g>a
Original code BSR198
Description Allele 1 and 2: A point mutation in the intron 18 leading
Description to an amino acid change
Date 16-May-2007 (Rel. 1, Created)
Date 16-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0004: 87317
Feature /change: g -> a
Feature /genomic_region: intron; 18
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: D0004: 87317
Feature /change: g -> a
Feature /genomic_region: intron; 18
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Ethnic origin Caucasoid; Italian
Parents Consanguineous
//
ID Deletion(2),Deletion(2); standard; MUTATION; HRDC,HRDC
Accession B0066
Original code BSR181 (Foundred 5)
Description Allele 1 and 2: Deletion of exons 20-22
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 20-22
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3826..
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /note: the putative effect on the protein is p.Glu1251fs
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 20-22
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /loc: IDRefSeq: C0004: 3826..
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: proposed effect on the protein is p.Glu1251fs
Ethnic origin Caucasoid; Portuguese (Switzerland)
//
ID Deletion(3),Deletion(3); standard; MUTATION; HRDC,HRDC
Accession B0067
Original code BSR195 (Foundred 5)
Description Allele 1 and 2: Deletion of exons 20-22
Date 10-May-2007 (Rel. 1, Created)
Date 10-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exon; 20-22
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 3826..
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /note: the putative effect on the protein is p.Glu1251fs
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exon; 20-22
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /loc: IDRefSeq: C0004: 3826..
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: the putative effect on the protein is p.Glu1251fs
Ethnic origin Caucasoid; Brazilian
//
ID Deletion(4),R899X(7); standard; MUTATION; ,DEAH
Accession B0091
Systematic name Allele 2: g.68549C>T, c.2695C>T, r.2695c>u, p.Arg899X
Original code BSR111 (Foundred 8)
Description Allele 1: A large deletion from the intron 10 to the intron Description Allele 1: 12
Description Allele 2: A point mutation in the exon 14 leading to a
Description premature stop codon
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 52612..60602
Feature /genomic_region: intron; 10, exon; 11, intron; 11, exon Feature /genomic_region: 12, intron 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -117
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0004: 68549
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0004: 2769
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 899
Feature /change: R -> X
Feature /domain: DEAH
Ethnic origin Caucasoid; Massachusetts
//
ID Deletion(5),#Q975X998(2); standard; MUTATION; ,DEAH
Accession B0095
Systematic name Allele 2: g.74344delC, c.2923delC, r.2923delc,
Systematic name p.Gln975fsX24
Original code BSR20 (Foundred 9)
Description Allele 1: A deletion from the intron 14 to the intron 15
Description Allele 2: A frame shift deletion mutation in the exon 15
Description leading to a premature stop codon
Date 11-May-2007 (Rel. 1, Created)
Date 11-May-2007 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17407155
RefAuthors German, J., Sanz, M. M., Ciocci, S., Ye, T. Z., Ellis, N.
RefAuthors A.
RefTitle Syndrome-causing mutations of the BLM gene in persons in
RefTitle the bloom's syndrome registry.
RefLoc Hum Mutat 28(8):743-53 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 73168..74750
Feature /change: -aatgtagatg gatgactaac cgagagcgca ggccactcac
Feature /change: cgccattcct ggtgttgata aatgtacccc tttactgtcc
Feature /change: acatactcca gagcttgcag ttccttccgc tggtactcac
Feature /change: agttactgaa atcatgtcat tagtctcagt ctgcctgcca
Feature /change: gatatttcag atgcctttga aatactgttc ttgcagtagc
Feature /change: aattcatttt tttaagtgct aaaaaaaaac ttgcagtttt
Feature /change: atttgtgaag tgtaattttg cctggagata taacattttg
Feature /change: gtctgggtta aatagctcct aaattctcaa ctgaaatgga
Feature /change: tatccttgaa aactgattta tcaagctcct gagagtgaac
Feature /change: tatcaccttg cttccactaa gtaatttgta aggtctaaga
Feature /change: tccgcagtcc ctggtgtttt tttttttttt tttttttttt
Feature /change: tttttttttt ttggtataag tagctctcag acttttaccc
Feature /change: acatgagttt ccattaaaat tgtacaagct ttgactttaa
Feature /change: atcagctgat gaatagaagg agttgatgtg tgatcagctg
Feature /change: gtgctattgg gaaaactgat gataagcagt ggagcaggta
Feature /change: agaacgtatt gttcctgaac cattggagga actagcagca
Feature /change: gtgacctctg aggagccctg ggaacaccct ggagctcctg
Feature /change: agcaacacgt tgcttgtgat cactgacctg gatatcatga
Feature /change: ctgtgtgagc aacacccccc acacctcagt agcaaaaaca
Feature /change: gagaacagtg gcagcacatc gtgggctgac tgcagttgat
Feature /change: tctggctctc ttacatgaga atgccaagtc atacaagaaa
Feature /change: gtgcctgcca tgctgagctt ctctttacct tcttgggttt
Feature /change: taatggcatt gcaagttatc agtataaaaa ctcatattag
Feature /change: ttatactaaa tagttggacc aagttaagat attaggttgt
Feature /change: tatgtagtgt gcattttaaa gtaaaacaaa tgatagagct
Feature /change: tttagaagca tctattatga aaatgttcct tcaagtctgt
Feature /change: gccttatgaa tctaataagc ttttgctttt atatcaggtt
Feature /change: atctgtgcta caattgcatt tggaatgggg attgacaaac
Feature /change: cggacgtgcg atttgtgatt catgcatctc tccctaaatc
Feature /change: tgtggagggt tactaccaag aatctggcag agctggaaga
Feature /change: gatggggaaa tatctcactg cctgcttttc tatacctatc
Feature /change: atgatgtgac cagactgaaa agacttataa tgagtaagct
Feature /change: gggctccatt gtagagacat tctgtcatct tcagcctcat
Feature /change: gatagtagtc tactcctgct attgtggtac ttctggtcca
Feature /change: gttttcctta aataatcgta gaaaaataga ggagtttata
Feature /change: cagattggca attttatttt agttcatttt tattataaaa
Feature /change: gtggtaagtg cttattttgt aaaactcaaa tgatacagat
Feature /change: gtgtacaagg cagaaaattt acaaaccatg ccttgtagtt
Feature /change: ttgcccccaa aataactcta gttattggtt tcctttgtat
Feature /change: cctttcagac cctatttctg cat
Feature /genomic_region: intron; 14, exon; 15, intron; 15
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: -1077
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0004: 74344
Feature /change: -c
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0004: 2997
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P54132; BLM_HUMAN: 975
Feature /change: Q -> KNLAELEEMG KYLTACFSIP IMMX
Feature /domain: DEAH
Ethnic origin Caucasoid; Maryland
//
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