Database MRE11Abase
Version 1.0
File mre11apub.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/MRE11Abase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF120.html
Gene MRE11A
Disease Ataxia-telangiectasia-like disorder (ATLD)
OMIM 600814
GDB 568485
Sequence IDRefSeq:D0061; IDRefSeq:C0061; UniProt:P49959
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID N117S(1a),R572X(1a); standard; MUTATION;
Accession M0003
Systematic name Allele 1: g.15119A>G, c.350A>G, r.350a>g, p.Asn117Ser
Systematic name Allele 2: g.47557C>T, c.1714C>T, r.1714c>u, p.Arg572X
Original code ATLD3
Description Allele 1: a point mutation in the exon 5 leading to
Description an amino acid change
Description Allele 2: a point mutation in the exon 15 leading to a
Description premature stop codon
Date 02-Dec-2003 (Rel. 1, Created)
Date 02-Dec-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10612394
RefAuthors Stewart, G. S., Maser, R. S., Stankovic, T., Bressan, D.
RefAuthors A., Kaplan, M. I., Jaspers, N. G., Raams, A., Byrd, P.
RefAuthors J., Petrini, J. H., Taylor, A. M.
RefTitle The DNA double-strand break repair gene hMRE11 is mutated
RefTitle in individuals with an ataxia-telangiectasia-like
RefTitle disorder.
RefLoc Cell 99:577-587 (1999)
RefNumber [2]
RefCrossRef PUBMED; 11371508
RefAuthors Pitts, S. A., Kullar, H. S., Stankovic, T., Stewart, G.
RefAuthors S., Last, J. I., Bedenham, T., Armstrong, S. J., Piane,
RefAuthors M., Chessa, L., Taylor, A. M., Byrd, P. J.
RefTitle HMRE11: genomic structure and a null mutation identified
RefTitle in a transcript protected from nonsense-mediated mRNA
RefTitle decay.
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 15119
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 509
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 117
Feature /change: N -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 47557
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0061: 1873
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49959; MRE11_HUMAN: 572
Feature /change: R -> X
Symptoms Increased chromosomal radiosensitivity
Sex XY
Parents Non-consanguineous
Relative MRE11Abase; M0004 brother
//
ID N117S(1b),R572X(1b); standard; MUTATION;
Accession M0004
Systematic name Allele 1 and 2: g.15119A>G, c.350A>G, r.350a>g,
Systematic name p.Asn117Ser
Systematic name Allele 2: g.47557C>T, c.1714C>T, r.1714c>u, p.Arg572X
Original code ATLD4
Description Allele 1 and 2: a point mutation in the exon 5 leading to
Description an amino acid change
Description Allele 2: a point mutation in the exon 15 leading to a
Description premature stop codon
Date 02-Dec-2003 (Rel. 1, Created)
Date 02-Dec-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10612394
RefAuthors Stewart, G. S., Maser, R. S., Stankovic, T., Bressan, D.
RefAuthors A., Kaplan, M. I., Jaspers, N. G., Raams, A., Byrd, P.
RefAuthors J., Petrini, J. H., Taylor, A. M.
RefTitle The DNA double-strand break repair gene hMRE11 is mutated
RefTitle in individuals with an ataxia-telangiectasia-like
RefTitle disorder.
RefLoc Cell 99:577-587 (1999)
RefNumber [2]
RefCrossRef PUBMED; 11371508
RefAuthors Pitts, S. A., Kullar, H. S., Stankovic, T., Stewart, G.
RefAuthors S., Last, J. I., Bedenham, T., Armstrong, S. J., Piane,
RefAuthors M., Chessa, L., Taylor, A. M., Byrd, P. J.
RefTitle HMRE11: genomic structure and a null mutation identified
RefTitle in a transcript protected from nonsense-mediated mRNA
RefTitle decay.
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 15119
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 509
Feature /codon: aac -> agc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 117
Feature /change: N -> S
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 47557
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0061: 1873
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49959; MRE11_HUMAN: 572
Feature /change: R -> X
Symptoms Increased chromosomal radiosensitivity
Sex XY
Parents Non-consanguineous
Relative MRE11Abase; M0003 brother
//
ID @C139X165(1),@C139X165(1); standard; MUTATION;
Accession M0019
Systematic name Allele 1 and 2: g.15981dupT, c.415dupT, r.415dupu,
Systematic name p.Cys139fsX27
Original code P.1
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 6 leading to a premature stop codon
Date 15-Jun-2010 (Rel. 1, Created)
Date 15-Jun-2010 (Rel. 1, Last updated, Version 1)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0061: 15982
Feature /change: +t
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0061; GI:24234689; MRE11AC: 575
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49959; MRE11_HUMAN: 139
Feature /change: C -> LCLGHFKLCW ICKSLWTFNV CGEDRHX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0061: 15982
Feature /change: +t
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0061; GI:24234689; MRE11AC: 575
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49959; MRE11_HUMAN: 139
Feature /change: C -> LCLGHFKLCW ICKSLWTFNV CGEDRHX
Symptoms pneumonia, lung abscess,
Age 4.5
Sex XY
Ethnic origin Germany
Parents Consanguineous
Relative heterozygous mutation in parents
Comment Alive
//
ID W243R(2),Intron 10(2); standard; MUTATION;
Accession M0018
Systematic name Allele 1: g.23153T>C, c.727T>C, r.727u>c, p.Trp243Arg
Systematic name Allele 2: g.27037G>A, c.1098+5G>A, r.1098+5g>a
Original code 18
Description Allele 1: A point mutation in the exon 8 leading to
Description an amino acid change
Description Allele 2: A point mutation in the intron 10 leading
Description to aberrant splicing
Date 15-Jun-2010 (Rel. 1, Created)
Date 15-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19732584
RefAuthors Uchisaka, N., Takahashi, N., Sato, M., Kikuchi, A.,
RefAuthors Mochizuki, S., Imai, K., Nonoyama, S., Ohara, O.,
RefAuthors Watanabe, F., Mizutani, S., Hanada, R., Morio, T.
RefTitle Two brothers with ataxia-telangiectasia-like disorder with
RefTitle lung adenocarcinoma.
RefLoc J Pediatr:435-438 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 23153
Feature /change: t -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061; GI:24234689; MRE11AC: 886
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 243
Feature /change: W -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 27037
Feature /change: g -> a
Feature /genomic_region: intron; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms small jaw, atrophy of lower legs, equinus foot deformitiese
Age 16
Sex XY
Ethnic origin Japan
Parents Non-consanguineous
Relative MRE11Abase; M0017 brother
Comment died of lung adenocarcinoma after 11 months of diagnosis
//
ID W210C(1a),W210C(1a); standard; MUTATION;
Accession M0007
Systematic name Allele 1 and 2: g.18527G>C, c.630G>C, r.630g>c, p.Trp210Cys
Original code Family 1, Patient 1
Description Allele 1 and 2: a point mutation in the exon 7 leading to
Description an amino acid change
Date 21-Mar-2005 (Rel. 1, Created)
Date 21-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15574463
RefAuthors Fernet, M., Gribaa, M., Salih, M. A., Seidahmed, M. Z.,
RefAuthors Hall, J., Koenig, M.
RefTitle Identification and functional consequences of a novel
RefTitle MRE11 mutation affecting 10 saudi arabian patients with
RefTitle the ataxia telangiectasia-like disorder.
RefLoc Hum Mol Genet 14:307-318 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
Symptoms Cerebellar atrophy, ataxia, facial dyskinesia, masked face,
Symptoms ocular apraxia, wheelchair bound for 13 years
Age 24 mo
Sex XX
Ethnic origin Caucasoid; Saudi-Arabia
Parents Consanguineous
Relative MRE11Abase; M0008 sister
Relative MRE11Abase; M0009 brother
Relative MRE11Abase; M0010 brother
//
ID W210C(1b),W210C(1b); standard; MUTATION;
Accession M0008
Systematic name Allele 1 and 2: g.18527G>C, c.630G>C, r.630g>c, p.Trp210Cys
Original code Family 1, Patient 2
Description Allele 1 and 2: a point mutation in the exon 7 leading to
Description an amino acid change
Date 21-Mar-2005 (Rel. 1, Created)
Date 21-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15574463
RefAuthors Fernet, M., Gribaa, M., Salih, M. A., Seidahmed, M. Z.,
RefAuthors Hall, J., Koenig, M.
RefTitle Identification and functional consequences of a novel
RefTitle MRE11 mutation affecting 10 saudi arabian patients with
RefTitle the ataxia telangiectasia-like disorder.
RefLoc Hum Mol Genet 14:307-318 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
Symptoms Ataxia, facial dyskinesia, masked face, ocular apraxia,
Symptoms wheelchair bound for 13 years
Age 33 mo
Sex XX
Ethnic origin Caucasoid; Saudi-Arabia
Parents Consanguineous
Relative MRE11Abase; M0007 sister
Relative MRE11Abase; M0009 brother
Relative MRE11Abase; M0010 brother
//
ID W210C(1c),W210C(1c); standard; MUTATION;
Accession M0009
Systematic name Allele 1 and 2: g.18527G>C, c.630G>C, r.630g>c, p.Trp210Cys
Original code Family 1, Patient 3
Description Allele 1 and 2: a point mutation in the exon 7 leading to
Description an amino acid change
Date 21-Mar-2005 (Rel. 1, Created)
Date 21-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15574463
RefAuthors Fernet, M., Gribaa, M., Salih, M. A., Seidahmed, M. Z.,
RefAuthors Hall, J., Koenig, M.
RefTitle Identification and functional consequences of a novel
RefTitle MRE11 mutation affecting 10 saudi arabian patients with
RefTitle the ataxia telangiectasia-like disorder.
RefLoc Hum Mol Genet 14:307-318 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
Symptoms Ataxia, facial dyskinesia, masked face, ocular apraxia
Age 12 mo
Sex XY
Ethnic origin Caucasoid; Saudi-Arabia
Parents Consanguineous
Relative MRE11Abase; M0007 sister
Relative MRE11Abase; M0008 sister
Relative MRE11Abase; M0010 monozygotic twinbrother
//
ID W210C(1d),W210C(1d); standard; MUTATION;
Accession M0010
Systematic name Allele 1 and 2: g.18527G>C, c.630G>C, r.630g>c, p.Trp210Cys
Original code Family 1, Patient 4
Description Allele 1 and 2: a point mutation in the exon 7 leading to
Description an amino acid change
Date 21-Mar-2005 (Rel. 1, Created)
Date 21-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15574463
RefAuthors Fernet, M., Gribaa, M., Salih, M. A., Seidahmed, M. Z.,
RefAuthors Hall, J., Koenig, M.
RefTitle Identification and functional consequences of a novel
RefTitle MRE11 mutation affecting 10 saudi arabian patients with
RefTitle the ataxia telangiectasia-like disorder.
RefLoc Hum Mol Genet 14:307-318 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
Symptoms Ataxia, facial dyskinesia, masked face, ocular apraxia
Age 12 mo
Sex XY
Ethnic origin Caucasoid; Saudi-Arabia
Parents Consanguineous
Relative MRE11Abase; M0007 sister
Relative MRE11Abase; M0008 sister
Relative MRE11Abase; M0009 monozygotic twinbrother
//
ID W210C(2a),W210C(2a); standard; MUTATION;
Accession M0011
Systematic name Allele 1 and 2: g.18527G>C, c.630G>C, r.630g>c, p.Trp210Cys
Original code Family 2, Patient 5
Description Allele 1 and 2: a point mutation in the exon 7 leading to
Description an amino acid change
Date 21-Mar-2005 (Rel. 1, Created)
Date 21-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15574463
RefAuthors Fernet, M., Gribaa, M., Salih, M. A., Seidahmed, M. Z.,
RefAuthors Hall, J., Koenig, M.
RefTitle Identification and functional consequences of a novel
RefTitle MRE11 mutation affecting 10 saudi arabian patients with
RefTitle the ataxia telangiectasia-like disorder.
RefLoc Hum Mol Genet 14:307-318 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
Symptoms Cerebellar atrophy, ataxia, ocular apraxia, microcephaly
Age 15 mo
Sex XX
Ethnic origin Caucasoid; Saudi-Arabia
Parents Consanguineous
Relative MRE11Abase; M0012 sister
Relative MRE11Abase; M0013 sister
//
ID W210C(2b),W210C(2b); standard; MUTATION;
Accession M0012
Systematic name Allele 1 and 2: g.18527G>C, c.630G>C, r.630g>c, p.Trp210Cys
Original code Family 2, Patient 6
Description Allele 1 and 2: a point mutation in the exon 7 leading to
Description an amino acid change
Date 21-Mar-2005 (Rel. 1, Created)
Date 21-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15574463
RefAuthors Fernet, M., Gribaa, M., Salih, M. A., Seidahmed, M. Z.,
RefAuthors Hall, J., Koenig, M.
RefTitle Identification and functional consequences of a novel
RefTitle MRE11 mutation affecting 10 saudi arabian patients with
RefTitle the ataxia telangiectasia-like disorder.
RefLoc Hum Mol Genet 14:307-318 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
Symptoms Cerebellar atrophy, ataxia, ocular apraxia, microcephaly
Age 15 mo
Sex XX
Ethnic origin Caucasoid; Saudi-Arabia
Parents Consanguineous
Relative MRE11Abase; M0011 sister
Relative MRE11Abase; M0013 sister
//
ID W210C(2c),W210C(2c); standard; MUTATION;
Accession M0013
Systematic name Allele 1 and 2: g.18527G>C, c.630G>C, r.630g>c, p.Trp210Cys
Original code Family 2, Patient 7
Description Allele 1 and 2: a point mutation in the exon 7 leading to
Description an amino acid change
Date 21-Mar-2005 (Rel. 1, Created)
Date 21-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15574463
RefAuthors Fernet, M., Gribaa, M., Salih, M. A., Seidahmed, M. Z.,
RefAuthors Hall, J., Koenig, M.
RefTitle Identification and functional consequences of a novel
RefTitle MRE11 mutation affecting 10 saudi arabian patients with
RefTitle the ataxia telangiectasia-like disorder.
RefLoc Hum Mol Genet 14:307-318 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
Symptoms Cerebellar atrophy, ataxia, mild ocular apraxia,
Symptoms microcephaly
Age 15 mo
Sex XX
Ethnic origin Caucasoid; Saudi-Arabia
Parents Consanguineous
Relative MRE11Abase; M0011 sister
Relative MRE11Abase; M0012 sister
//
ID W210C(3a),W210C(3a); standard; MUTATION;
Accession M0014
Systematic name Allele 1 and 2: g.18527G>C, c.630G>C, r.630g>c, p.Trp210Cys
Original code Family 3, Patient 8
Description Allele 1 and 2: a point mutation in the exon 7 leading to
Description an amino acid change
Date 21-Mar-2005 (Rel. 1, Created)
Date 21-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15574463
RefAuthors Fernet, M., Gribaa, M., Salih, M. A., Seidahmed, M. Z.,
RefAuthors Hall, J., Koenig, M.
RefTitle Identification and functional consequences of a novel
RefTitle MRE11 mutation affecting 10 saudi arabian patients with
RefTitle the ataxia telangiectasia-like disorder.
RefLoc Hum Mol Genet 14:307-318 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
Symptoms Cerebellar atrophy, ataxia, ocular apraxia
Age 84 mo
Sex XY
Ethnic origin Caucasoid; Saudi-Arabia
Parents Consanguineous
Relative MRE11Abase; M0015 sister
Relative MRE11Abase; M0016 sister
//
ID W210C(3b),W210C(3b); standard; MUTATION;
Accession M0015
Systematic name Allele 1 and 2: g.18527G>C, c.630G>C, r.630g>c, p.Trp210Cys
Original code Family 3, Patient 9
Description Allele 1 and 2: a point mutation in the exon 7 leading to
Description an amino acid change
Date 21-Mar-2005 (Rel. 1, Created)
Date 21-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15574463
RefAuthors Fernet, M., Gribaa, M., Salih, M. A., Seidahmed, M. Z.,
RefAuthors Hall, J., Koenig, M.
RefTitle Identification and functional consequences of a novel
RefTitle MRE11 mutation affecting 10 saudi arabian patients with
RefTitle the ataxia telangiectasia-like disorder.
RefLoc Hum Mol Genet 14:307-318 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
Symptoms Cerebellar atrophy, ataxia, ocular apraxia
Age 16 mo
Sex XX
Ethnic origin Caucasoid; Saudi-Arabia
Parents Consanguineous
Relative MRE11Abase; M0014 brother
Relative MRE11Abase; M0016 sister
//
ID W210C(3c),W210C(3c); standard; MUTATION;
Accession M0016
Systematic name Allele 1 and 2: g.18527G>C, c.630G>C, r.630g>c, p.Trp210Cys
Original code Family 3, Patient 10
Description Allele 1 and 2: a point mutation in the exon 7 leading to
Description an amino acid change
Date 21-Mar-2005 (Rel. 1, Created)
Date 21-Mar-2005 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15574463
RefAuthors Fernet, M., Gribaa, M., Salih, M. A., Seidahmed, M. Z.,
RefAuthors Hall, J., Koenig, M.
RefTitle Identification and functional consequences of a novel
RefTitle MRE11 mutation affecting 10 saudi arabian patients with
RefTitle the ataxia telangiectasia-like disorder.
RefLoc Hum Mol Genet 14:307-318 (2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 18527
Feature /change: g -> c
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 789
Feature /codon: tgg -> tgc; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 210
Feature /change: W -> C
Symptoms Cerebellar atrophy, ataxia, microcephaly
Age 30 mo
Sex XX
Ethnic origin Caucasoid; Saudi-Arabia
Parents Consanguineous
Relative MRE11Abase; M0014 brother
Relative MRE11Abase; M0015 sister
//
ID W243R(1),Intron 10(1); standard; MUTATION;
Accession M0017
Systematic name Allele 1: g.23153T>C, c.727T>C, r.727u>c, p.Trp243Arg
Systematic name Allele 2: g.27037G>A, c.1098+5G>A, r.1098+5g>a
Original code 17
Description Allele 1: A point mutation in the exon 8 leading to
Description an amino acid change
Description Allele 2: A point mutation in the intron 10 leading
Description to aberrant splicing
Date 15-Jun-2010 (Rel. 1, Created)
Date 15-Jun-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19732584
RefAuthors Uchisaka, N., Takahashi, N., Sato, M., Kikuchi, A.,
RefAuthors Mochizuki, S., Imai, K., Nonoyama, S., Ohara, O.,
RefAuthors Watanabe, F., Mizutani, S., Hanada, R., Morio, T.
RefTitle Two brothers with ataxia-telangiectasia-like disorder with
RefTitle lung adenocarcinoma.
RefLoc J Pediatr:435-438 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 23153
Feature /change: t -> c
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061; GI:24234689; MRE11AC: 886
Feature /codon: tgg -> cgg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 243
Feature /change: W -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 27037
Feature /change: g -> a
Feature /genomic_region: intron; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms small jaw, atrophy of lower legs, equinus foot deformitiese
Age 9
Sex XY
Ethnic origin Japan
Parents Non-consanguineous
Relative MRE11Abase; M0018 brother
Comment died after 8 months of diagnosis
//
ID T481K(1a),R572X(2a); standard; MUTATION;
Accession M0005
Systematic name Allele 1: g.35379C>A, c.1442C>A, r.1442c>a, p.Thr481Lys
Systematic name Allele 2: g.47557C>T, c.1714C>T, r.1714c>u, p.Arg572X
Original code ATLD5
Description Allele 1: a point mutation in the exon 13 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 15 leading to a
Description premature stop codon
Date 07-Sep-2004 (Rel. 1, Created)
Date 07-Sep-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15269180
RefAuthors Delia, D., Piane, M., Buscemi, G., Savio, C., Palmeri,
RefAuthors S., Lulli, P., Carlessi, L., Fontanella, E., Chessa, L.
RefTitle MRE11 mutations and impaired ATM-dependent responses in
RefTitle an italian family with ataxia-telangiectasia-like
RefTitle disorder.
RefLoc Hum Mol Genet 13:2155-2163 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 35379
Feature /change: c -> a
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 1601
Feature /codon: aca -> aaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 481
Feature /change: T -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 47557
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0061: 1873
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49959; MRE11_HUMAN: 572
Feature /change: R -> X
Symptoms oculomotor aphraxia, cerebellar dysarthria, ataxix gait,
Symptoms choreoatherosis of the superior limbs, jerk nystagmus on
Symptoms horizontal and vertical gaze, dysmetria, dyskinetic
Symptoms movements of mounth and slight dystonia of the hands,
Symptoms diffuse hypotonia, reduced tendon reflexes in the arms,
Symptoms and absent ankle jerks with flexor plantar responses
Sex XY
Ethnic origin Caucasoid; Italy
Parents Non-consanguineous
Relative MRE11Abase; M0006 sister
//
ID T481K(1b),R572X(2b); standard; MUTATION;
Accession M0006
Systematic name Allele 1: g.35379C>A, c.1442C>A, r.1442c>a, p.Thr481Lys
Systematic name Allele 2: g.47557C>T, c.1714C>T, r.1714c>u, p.Arg572X
Original code ATLD6
Description Allele 1: a point mutation in the exon 13 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 15 leading to a
Description premature stop codon
Date 07-Sep-2004 (Rel. 1, Created)
Date 07-Sep-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 15269180
RefAuthors Delia, D., Piane, M., Buscemi, G., Savio, C., Palmeri,
RefAuthors S., Lulli, P., Carlessi, L., Fontanella, E., Chessa, L.
RefTitle MRE11 mutations and impaired ATM-dependent responses in
RefTitle an italian family with ataxia-telangiectasia-like
RefTitle disorder.
RefLoc Hum Mol Genet 13:2155-2163 (2004)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 35379
Feature /change: c -> a
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0061: 1601
Feature /codon: aca -> aaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49959; MRE11_HUMAN: 481
Feature /change: T -> K
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 47557
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 15
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0061: 1873
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49959; MRE11_HUMAN: 572
Feature /change: R -> X
Symptoms dystonic movements of the face and hands alogn with
Symptoms cerebellar ataxia, ocular apraxia and cerebellar
Symptoms dysarthria
Sex XX
Ethnic origin Caucasoid; Italy
Parents Non-consanguineous
Relative MRE11Abase; M0005 brother
//
ID R633X(1a),R633X(1a); standard; MUTATION;
Accession M0001
Systematic name Allele 1 and 2: g.57639C>T, c.1897C>T, r.1897c>u,
Systematic name p.Arg633X
Original code ATLD1
Description Allele 1 and 2: a point mutation in the exon 17 leading to
Description a premature stop codon
Date 02-Dec-2003 (Rel. 1, Created)
Date 02-Dec-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10612394
RefAuthors Stewart, G. S., Maser, R. S., Stankovic, T., Bressan, D.
RefAuthors A., Kaplan, M. I., Jaspers, N. G., Raams, A., Byrd, P.
RefAuthors J., Petrini, J. H., Taylor, A. M.
RefTitle The DNA double-strand break repair gene hMRE11 is mutated
RefTitle in individuals with an ataxia-telangiectasia-like
RefTitle disorder.
RefLoc Cell 99:577-587 (1999)
RefNumber [2]
RefCrossRef PUBMED; 8445618
RefAuthors Hernandez, D., McConville, C. M., Stacey, M., Woods, C.
RefAuthors G., Brown, M. M., Shutt, P., Rysiecki, G., Taylor, A. M.
RefTitle A family showing no evidence of linkage between the
RefTitle ataxia telangiectasia gene and chromosome 11q22-23.
RefLoc J Med Genet 30:135-140 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 57639
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0061: 2056
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49959; MRE11_HUMAN: 633
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 57639
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0061: 2056
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49959; MRE11_HUMAN: 633
Feature /change: R -> X
Symptoms progressive cerebellar degeneration, increased cellular
Symptoms and chromosomal radiosensitivity
Sex XX
Parents Consanguineous
Relative MRE11Abase; M0002 cousin
//
ID R633X(1b),R633X(1b); standard; MUTATION;
Accession M0002
Systematic name Allele 1 and 2: g.57639C>T, c.1897C>T, r.1897c>u,
Systematic name p.Arg633X
Original code ATLD2
Description Allele 1 and 2: a point mutation in the exon 17 leading to
Description a premature stop codon
Date 02-Dec-2003 (Rel. 1, Created)
Date 02-Dec-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10612394
RefAuthors Stewart, G. S., Maser, R. S., Stankovic, T., Bressan, D.
RefAuthors A., Kaplan, M. I., Jaspers, N. G., Raams, A., Byrd, P.
RefAuthors J., Petrini, J. H., Taylor, A. M.
RefTitle The DNA double-strand break repair gene hMRE11 is mutated
RefTitle in individuals with an ataxia-telangiectasia-like
RefTitle disorder.
RefLoc Cell 99:577-587 (1999)
RefNumber [2]
RefCrossRef PUBMED; 8445618
RefAuthors Hernandez, D., McConville, C. M., Stacey, M., Woods, C.
RefAuthors G., Brown, M. M., Shutt, P., Rysiecki, G., Taylor, A. M.
RefTitle A family showing no evidence of linkage between the
RefTitle ataxia telangiectasia gene and chromosome 11q22-23.
RefLoc J Med Genet 30:135-140 (1993)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0061: 57639
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 17
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0061: 2056
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49959; MRE11_HUMAN: 633
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0061: 57639
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 17
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0061: 2056
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49959; MRE11_HUMAN: 633
Feature /change: R -> X
Symptoms progressive cerebellar degeneration, increased cellular
Symptoms and chromosomal radiosensitivity
Sex XY
Parents Consanguineous
Relative MRE11Abase; M0001 cousin
//
|
