Database NHEJ1base
Version 1.0
File nhej1pub.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/NHEJ1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF152.html
Gene NHEJ1
Disease Combined immunodeficiency (CID) associated with
Disease microcephaly and increased cellular sensitivity to IR
Sequence IDRefSeq:D0113; IDRefSeq:C0113; UniProt:Q9H9Q4
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID @L4X47(1),@L4X47(1); standard; MUTATION;
Accession N0006
Systematic name Allele 1 and 2: g.13476dupT, c.11dupT, r.11dupu,
Systematic name p.Glu5fsX43
Description Allele 1 and 2: A frame shift duplication mutation in the
Description exon 2 leading to a premature stop codon
Date 10-Aug-2006 (Rel. 1, Created)
Date 10-Aug-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16439205
RefAuthors Ahnesorg, P., Smith, P., Jackson, S. P.
RefTitle XLF interacts with the XRCC4-DNA ligase IV complex to
RefTitle promote DNA nonhomologous end-joining.
RefLoc Cell:301-313 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0113: 13477
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0113: 102
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 4
Feature /change: L ->
Feature /change: LGARPVDAAM GVATACRELP LGQGFYHQAG LCLVGFRSST GVAX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0113: 13477
Feature /change: +t
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0113: 102
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 4
Feature /change: L ->
Feature /change: LGARPVDAAM GVATACRELP LGQGFYHQAG LCLVGFRSST GVAX
//
ID R57G(1),C123R(1); standard; MUTATION;
Accession N0001
Systematic name Allele 1: g.13634C>G, c.169C>G, r.169c>g, p.Arg57Gly
Systematic name Allele 2: g.14333T>C, c.367T>C, r.367u>c, p.Cys123Arg
Original code P1
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a point mutation in the exon 3 leading to an
Description amino acid change
Date 05-May-2006 (Rel. 1, Created)
Date 05-May-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16439204
RefAuthors Buck, D., Malivert, L., de Chasseval, R., Barraud, A.,
RefAuthors Fondaneche, M. C., Sanal, O., Plebani, A., Stephan, J. L.,
RefAuthors Hufnagel, M., le Deist, F., Fischer, A., Durandy, A., de
RefAuthors Villartay, J. P., Revy, P.
RefTitle Cernunnos, a novel nonhomologous end-joining factor, is
RefTitle mutated in human immunodeficiency with microcephaly.
RefLoc Cell 124:287-299 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0113: 13634
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0113: 259
Feature /codon: cga -> gga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 57
Feature /change: R -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0113: 14333
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0113: 457
Feature /codon: tgc -> cgc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 123
Feature /change: C -> R
Symptoms Microcephaly, growth retardation, chromosomal alterations,
Symptoms urogenital and bone malformations, bacterial and
Symptoms opportunistic infections, autoimmune anemia and
Symptoms thrombocytopenia
Ethnic origin Caucasoid; France
Parents Non-consanguineous
Comment Patient died at 18 years because of septic shock
//
ID R57G(2),R57G(2); standard; MUTATION;
Accession N0005
Systematic name Allele 1 and 2: g.13634C>G, c.169C>G, r.169c>g, p.Arg57Gly
Original code P5
Description Allele 1 and 2: a point mutation in the exon 2 leading to
Description an amino acid change
Date 05-May-2006 (Rel. 1, Created)
Date 05-May-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16439204
RefAuthors Buck, D., Malivert, L., de Chasseval, R., Barraud, A.,
RefAuthors Fondaneche, M. C., Sanal, O., Plebani, A., Stephan, J. L.,
RefAuthors Hufnagel, M., le Deist, F., Fischer, A., Durandy, A., de
RefAuthors Villartay, J. P., Revy, P.
RefTitle Cernunnos, a novel nonhomologous end-joining factor, is
RefTitle mutated in human immunodeficiency with microcephaly.
RefLoc Cell 124:287-299 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0113: 13634
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0113: 259
Feature /codon: cga -> gga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 57
Feature /change: R -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0113: 13634
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0113: 259
Feature /codon: cga -> gga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 57
Feature /change: R -> G
Symptoms Microcephaly, growth retardation, bird-like face,
Symptoms chromosomal alterations, birdlike face, bone marrow
Symptoms aplasia, recurrent respiratory tract infections
Ethnic origin Caucasoid; Italy
Parents Consanguineous
//
ID #K59X61/Intron 2(1a),#K59X61/Intron 2(1a); standard; ID
MUTATION;
Accession N0003
Systematic name Allele 1 and 2: g.13642delG; g.IVS2+3A>T, c.177delG;
Systematic name c.177+3A>T, r.177delg; r.177+3a>u, p.Glu60fsX2;
Original code P3
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon, and a point mutation
Description in the intron 2 leading to aberrant splicing
Date 05-May-2006 (Rel. 1, Created)
Date 05-May-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16439204
RefAuthors Buck, D., Malivert, L., de Chasseval, R., Barraud, A.,
RefAuthors Fondaneche, M. C., Sanal, O., Plebani, A., Stephan, J. L.,
RefAuthors Hufnagel, M., le Deist, F., Fischer, A., Durandy, A., de
RefAuthors Villartay, J. P., Revy, P.
RefTitle Cernunnos, a novel nonhomologous end-joining factor, is
RefTitle mutated in human immunodeficiency with microcephaly.
RefLoc Cell 124:287-299 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: deletion
Feature /loc: IDRefSeq: D0113: 13642
Feature /change: -g
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0113: 13645
Feature /change: a -> t
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: frameshift
Feature /loc: IDRefSeq: C0113: 267
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 5
Feature /rnalink: 3
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 59
Feature /change: K -> KSX
Feature aa; 6
Feature /rnalink: 4
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: deletion
Feature /loc: IDRefSeq: D0113: 13642
Feature /change: -g
Feature /genomic_region: exon; 2
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0113: 13645
Feature /change: a -> t
Feature /genomic_region: intron; 2
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: frameshift
Feature /loc: IDRefSeq: C0113: 267
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 11
Feature /rnalink: 9
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 59
Feature /change: K -> KSX
Feature aa; 12
Feature /rnalink: 10
Feature /name: unknown
Symptoms Microcephaly, growth retardation, birdlike face, bone
Symptoms malformation, autoimmune anemia and thrombocytopenia,
Symptoms bacterial and opportunistic infections
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative NHEJ1base; N0004; sibling
//
ID #K59X61/Intron 2(1a),#K59X61/Intron 2(1a); standard; ID
MUTATION;
Accession N0004
Systematic name Allele 1 and 2: g.13642delG; g.IVS2+3A>T, c.177delG;
Systematic name c.177+3A>T, r.177delg; r.177+3a>u,
Systematic name p.Glu60fsX2;
Original code P4
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon, and a point mutation
Description in the intron 2 leading to aberrant splicing
Date 05-May-2006 (Rel. 1, Created)
Date 05-May-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16439204
RefAuthors Buck, D., Malivert, L., de Chasseval, R., Barraud, A.,
RefAuthors Fondaneche, M. C., Sanal, O., Plebani, A., Stephan, J. L.,
RefAuthors Hufnagel, M., le Deist, F., Fischer, A., Durandy, A., de
RefAuthors Villartay, J. P., Revy, P.
RefTitle Cernunnos, a novel nonhomologous end-joining factor, is
RefTitle mutated in human immunodeficiency with microcephaly.
RefLoc Cell 124:287-299 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: deletion
Feature /loc: IDRefSeq: D0113: 13642
Feature /change: -g
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0113: 13645
Feature /change: a -> t
Feature /genomic_region: intron; 2
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: frameshift
Feature /loc: IDRefSeq: C0113: 267
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 5
Feature /rnalink: 3
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 59
Feature /change: K -> KSX
Feature aa; 6
Feature /rnalink: 4
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 9
Feature /name: deletion
Feature /loc: IDRefSeq: D0113: 13642
Feature /change: -g
Feature /genomic_region: exon; 2
Feature dna; 8
Feature /rnalink: 10
Feature /name: point
Feature /loc: IDRefSeq: D0113: 13645
Feature /change: a -> t
Feature /genomic_region: intron; 2
Feature rna; 9
Feature /dnalink: 7
Feature /aalink: 11
Feature /name: frameshift
Feature /loc: IDRefSeq: C0113: 267
Feature rna; 10
Feature /dnalink: 8
Feature /aalink: 12
Feature /name: unknown
Feature /inexloc: +3
Feature aa; 11
Feature /rnalink: 9
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 59
Feature /change: K -> KSX
Feature aa; 12
Feature /rnalink: 10
Feature /name: unknown
Symptoms Microcephaly, growth retardation, birdlike face, bone
Symptoms malformation, bacterial and opportunistic infections
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative NHEJ1base; N0004; sibling
//
ID R57G(3),R57G(3); standard; MUTATION;
Accession N0007
Systematic name Allele 1 and 2: g.13634C>G, c.169C>G, r.169c>g, p.Arg57Gly
Original code P1
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20597108
RefAuthors Dutrannoy, V., Demuth, I., Baumann, U., Schindler, D.,
RefAuthors Konrat, K., Neitzel, H., Gillessen-Kaesbach, G.,
RefAuthors Radszewski, J., Rothe, S., Schellenberger, M. T.,
RefAuthors Nurnberg, G., Nurnberg, P., Teik, K. W., Nallusamy, R.,
RefAuthors Reis, A., Sperling, K., Digweed, M., Varon, R.
RefTitle Clinical variability and novel mutations in the NHEJ1 gene
RefTitle in patients with a nijmegen breakage syndrome-like
RefTitle phenotype.
RefLoc Hum Mutat:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0113: 13634
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0113; GI:85857242; NHEJ1C: 259
Feature /codon: cga -> gga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 57
Feature /change: R -> G
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0113: 13634
Feature /change: c -> g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0113; GI:85857242; NHEJ1C: 259
Feature /codon: cga -> gga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 57
Feature /change: R -> G
Symptoms Microcephaly; Facial dysmorphism; Extreme radiosensitivity;
Age 12
Ethnic origin Spain
Parents Consanguineous
//
ID #K59X61(1b),#K59X61(1b); standard; MUTATION;
Accession N0004
Systematic name Allele 1 and 2: g.13642delG, c.177delG, r.177delg,
Systematic name p.Glu60fsX2
Original code P4
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 2 leading to a premature stop codon
Date 05-May-2006 (Rel. 1, Created)
Date 05-May-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16439204
RefAuthors Buck, D., Malivert, L., de Chasseval, R., Barraud, A.,
RefAuthors Fondaneche, M. C., Sanal, O., Plebani, A., Stephan, J. L.,
RefAuthors Hufnagel, M., le Deist, F., Fischer, A., Durandy, A., de
RefAuthors Villartay, J. P., Revy, P.
RefTitle Cernunnos, a novel nonhomologous end-joining factor, is
RefTitle mutated in human immunodeficiency with microcephaly.
RefLoc Cell 124:287-299 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0113: 13642
Feature /change: -g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0113: 267
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 59
Feature /change: K -> KSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0113: 13642
Feature /change: -g
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0113: 267
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 59
Feature /change: K -> KSX
Symptoms Microcephaly, growth retardation, birdlike face, bone
Symptoms malformation, bacterial and opportunistic infections
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Relative NHEJ1base; N0003 sibling
//
ID @D166X185(1a),?; standard; MUTATION;
Accession N0008
Systematic name Allele 1: g.24137dupA, c.495dupA, r.495dupa,
Systematic name p.Asp166fsX20
Original code P2
Description Allele 1: A frame shift duplication mutation in the
Description exon 4 leading to a premature stop codon
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20597108
RefAuthors Dutrannoy, V., Demuth, I., Baumann, U., Schindler, D.,
RefAuthors Konrat, K., Neitzel, H., Gillessen-Kaesbach, G.,
RefAuthors Radszewski, J., Rothe, S., Schellenberger, M. T.,
RefAuthors Nurnberg, G., Nurnberg, P., Teik, K. W., Nallusamy, R.,
RefAuthors Reis, A., Sperling, K., Digweed, M., Varon, R.
RefTitle Clinical variability and novel mutations in the NHEJ1 gene
RefTitle in patients with a nijmegen breakage syndrome-like
RefTitle phenotype.
RefLoc Hum Mutat:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0113: 24138
Feature /change: +a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0113; GI:85857242; NHEJ1C: 586
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 166
Feature /change: D -> RLPGEWGYAD SRSIEDRTIX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Microcephaly; Extreme radiosensitivity;
Age 6
Ethnic origin Germany
Parents Non-consanguineous
Relative NHEJ1base; N0009; sibling
//
ID @D166X185(1b),?; standard; MUTATION;
Accession N0009
Systematic name Allele 1: g.24137dupA, c.495dupA, r.495dupa,
Systematic name p.Asp166fsX20
Original code P3
Description Allele 1: A frame shift duplication mutation in the
Description exon 4 leading to a premature stop codon
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20597108
RefAuthors Dutrannoy, V., Demuth, I., Baumann, U., Schindler, D.,
RefAuthors Konrat, K., Neitzel, H., Gillessen-Kaesbach, G.,
RefAuthors Radszewski, J., Rothe, S., Schellenberger, M. T.,
RefAuthors Nurnberg, G., Nurnberg, P., Teik, K. W., Nallusamy, R.,
RefAuthors Reis, A., Sperling, K., Digweed, M., Varon, R.
RefTitle Clinical variability and novel mutations in the NHEJ1 gene
RefTitle in patients with a nijmegen breakage syndrome-like
RefTitle phenotype.
RefLoc Hum Mutat:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0113: 24138
Feature /change: +a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0113; GI:85857242; NHEJ1C: 586
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 166
Feature /change: D -> RLPGEWGYAD SRSIEDRTIX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Microcephaly; Extreme radiosensitivity;
Age 6
Ethnic origin Germany
Parents Non-consanguineous
Relative NHEJ1base; N0008; sibling
//
ID R176X(1),?; standard; MUTATION;
Accession N0010
Systematic name Allele 1: g.24168C>T, c.526C>T, r.526c>u, p.Arg176X
Original code P4
Description Allele 1: A point mutation in the exon 4 leading to a
Description premature stop codon
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20597108
RefAuthors Dutrannoy, V., Demuth, I., Baumann, U., Schindler, D.,
RefAuthors Konrat, K., Neitzel, H., Gillessen-Kaesbach, G.,
RefAuthors Radszewski, J., Rothe, S., Schellenberger, M. T.,
RefAuthors Nurnberg, G., Nurnberg, P., Teik, K. W., Nallusamy, R.,
RefAuthors Reis, A., Sperling, K., Digweed, M., Varon, R.
RefTitle Clinical variability and novel mutations in the NHEJ1 gene
RefTitle in patients with a nijmegen breakage syndrome-like
RefTitle phenotype.
RefLoc Hum Mutat:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0113: 24168
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0113; GI:85857242; NHEJ1C: 616
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 176
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: unknown
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Microcephaly; Facial dysmorphism; Clinodactyly;
Symptoms Hearing loss;
Age 8
Ethnic origin Malaysia
Parents Non-consanguineous
//
ID R178X(1),R178X(1); standard; MUTATION;
Accession N0002
Systematic name Allele 1 and 2: g.25092C>T, c.532C>T, r.532c>u, p.Arg178X
Original code P2
Description Allele 1 and 2: a point mutation in the exon 5 leading to a
Description premature stop codon
Date 05-May-2006 (Rel. 1, Created)
Date 05-May-2006 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 16439204
RefAuthors Buck, D., Malivert, L., de Chasseval, R., Barraud, A.,
RefAuthors Fondaneche, M. C., Sanal, O., Plebani, A., Stephan, J. L.,
RefAuthors Hufnagel, M., le Deist, F., Fischer, A., Durandy, A., de
RefAuthors Villartay, J. P., Revy, P.
RefTitle Cernunnos, a novel nonhomologous end-joining factor, is
RefTitle mutated in human immunodeficiency with microcephaly.
RefLoc Cell 124:287-299 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0113: 25092
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0113: 622
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 178
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0113: 25092
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0113: 622
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 178
Feature /change: R -> X
Symptoms Microcephaly, growth retardation, bacterial and
Symptoms opportunistic infections
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Comment Patient died at 4 years because of septic shock
//
ID R178X(2),R178X(2); standard; MUTATION;
Accession N0011
Systematic name Allele 1 and 2: g.25092C>T, c.532C>T, r.532c>u, p.Arg178X
Original code P5
Description Allele 1 and 2: A point mutation in the exon 5 leading to a
Description premature stop codon
Date 23-Jul-2010 (Rel. 1, Created)
Date 23-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 20597108
RefAuthors Dutrannoy, V., Demuth, I., Baumann, U., Schindler, D.,
RefAuthors Konrat, K., Neitzel, H., Gillessen-Kaesbach, G.,
RefAuthors Radszewski, J., Rothe, S., Schellenberger, M. T.,
RefAuthors Nurnberg, G., Nurnberg, P., Teik, K. W., Nallusamy, R.,
RefAuthors Reis, A., Sperling, K., Digweed, M., Varon, R.
RefTitle Clinical variability and novel mutations in the NHEJ1 gene
RefTitle in patients with a nijmegen breakage syndrome-like
RefTitle phenotype.
RefLoc Hum Mutat:c (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0113: 25092
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0113; GI:85857242; NHEJ1C: 622
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 178
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0113: 25092
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0113; GI:85857242; NHEJ1C: 622
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q9H9Q4; NHEJ1_HUMAN: 178
Feature /change: R -> X
Symptoms Microcephaly; Autoimmune hemolytic anaemia; Extreme
Symptoms radiosensitivity;
Age 1
Ethnic origin Turkey
Parents Consanguineous
Comment Patient died due to sepsis.
//
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