Database LIG4base
Version 1.1
File lig4pub.txt
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/lig4base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF118.html
Gene LIG4
Disease LIG4 syndrome
OMIM 601837
GDB GDB:624512
Sequence IDRefSeq:D0054; IDRefSeq:C0054; UniProt:P49917
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID A3V/T9I/R278H(1),A3V/T9I/R278H(1); standard; MUTATION;
Accession L0003
Systematic name Allele 1 and 2: g.[4522C>T; 4540C>T; 5347G>A],
Systematic name c.[8C>T; 26C>T; 833G>A], r.[8c>u; 26c>; 833g>a],
Systematic name p.[Ala3Val; Thr9Ile; Arg278His]
Original code Patient 411BR
Description Allele 1 and 2: multiple point mutations in the exon 2
Description leading to amino acid changes
Date 05-Oct-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11779494
RefAuthors O'Driscoll, M., Cerosaletti, K. M., Girard, P. M., Dai,
RefAuthors Y., Stumm, M., Kysela, B., Hirsch, B., Gennery, A.,
RefAuthors Palmer, S. E., Seidel, J., Gatti, R. A., Varon, R.,
RefAuthors Oettinger, M. A., Neitzel, H., Jeggo, P. A., Concannon, P.
RefTitle DNA ligase IV mutations identified in patients exhibiting
RefTitle developmental delay and immunodeficiency.
RefLoc Mol Cell 8:1175-1185 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0054: 4522
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature dna; 2
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0054: 4540
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature dna; 3
Feature /rnalink: 6
Feature /name: point
Feature /loc: IDRefSeq: D0054: 5347
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 4
Feature /dnalink: 1
Feature /aalink: 7
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 281
Feature /codon: gcc -> gtc; 2
Feature rna; 5
Feature /dnalink: 2
Feature /aalink: 8
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 299
Feature /codon: act -> att; 2
Feature rna; 6
Feature /dnalink: 3
Feature /aalink: 9
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 1106
Feature /codon: cgt -> cat; 2
Feature aa; 7
Feature /rnalink: 4
Feature /name: aa substitution
Feature /loc: UniProt: P49917; DNL4_HUMAN: 3
Feature /change: A -> V
Feature aa; 8
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P49917; DNL4_HUMAN: 9
Feature /change: T -> I
Feature aa; 9
Feature /rnalink: 6
Feature /name: aa substitution
Feature /loc: UniProt: P49917; DNL4_HUMAN: 278
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 10
Feature /rnalink: 13
Feature /name: point
Feature /loc: IDRefSeq: D0054: 4522
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature dna; 11
Feature /rnalink: 14
Feature /name: point
Feature /loc: IDRefSeq: D0054: 4540
Feature /change: c -> t
Feature /genomic_region: exon; 2
Feature dna; 12
Feature /rnalink: 15
Feature /name: point
Feature /loc: IDRefSeq: D0054: 5347
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 13
Feature /dnalink: 10
Feature /aalink: 16
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 281
Feature /codon: gcc -> gtc; 2
Feature rna; 14
Feature /dnalink: 11
Feature /aalink: 17
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 299
Feature /codon: act -> att; 2
Feature rna; 15
Feature /dnalink: 12
Feature /aalink: 18
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 1106
Feature /codon: cgt -> cat; 2
Feature aa; 16
Feature /rnalink: 13
Feature /name: aa substitution
Feature /loc: UniProt: P49917; DNL4_HUMAN: 3
Feature /change: A -> V
Feature aa; 17
Feature /rnalink: 14
Feature /name: aa substitution
Feature /loc: UniProt: P49917; DNL4_HUMAN: 9
Feature /change: T -> I
Feature aa; 18
Feature /rnalink: 15
Feature /name: aa substitution
Feature /loc: UniProt: P49917; DNL4_HUMAN: 278
Feature /change: R -> H
Symptoms Microcephaly
Symptoms Comments: at birth, not evident at age 9
Symptoms Facial features:
Symptoms Bird-like
Symptoms Developmental/growth delay:
Symptoms Developmental delay
Symptoms Immunodeficiency:
Symptoms Pancytopenia
Symptoms Skin conditions:
Symptoms Other: extensive plantar warts
Age 9
//
ID M249V(1),#K424X443(3); standard; MUTATION;
Accession L0012
Systematic name Allele 1: g.5259A>G, c.745A>G, r.745a>g, p.Met249Val
Systematic name Allele 2: g.5784_5788delAAAAG, c.1270_1274delAAAAG,
Systematic name r.1270_1274delaaaag, p.Lys424fsX20
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Date 05-Jul-2010 (Rel. 1, Created)
Date 05-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11337742
RefAuthors Yamada, M., Matsuura, S., Tsukahara, M., Ebe, K., Ohtsu,
RefAuthors M., Furuta, H., Kobayashi, I., Kawamura, N., Okano, M.,
RefAuthors Shouji, R., Kobayashi, K.
RefTitle Combined immunodeficiency, chromosomal instability, and
RefTitle postnatal growth deficiency in a japanese girl.
RefLoc Am J Med Genet:9-12 (2001)
RefNumber [2]
RefCrossRef PUBMED; 17345618
RefAuthors Toita, N., Hatano, N., Ono, S., Yamada, M., Kobayashi, R.,
RefAuthors Kobayashi, I., Kawamura, N., Okano, M., Satoh, A.,
RefAuthors Nakagawa, A., Ohshima, K., Shindoh, M., Takami, T.,
RefAuthors Kobayashi, K., Ariga, T.
RefTitle Epstein-barr virus-associated B-cell lymphoma in a patient
RefTitle with DNA ligase IV (LIG4) syndrome.
RefLoc Am J Med Genet A:742-745 (2007)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0054: 5259
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0054; GI:23199992; LIG4C: 1018
Feature /codon: atg -> gtg; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49917; DNL4_HUMAN: 249
Feature /change: M -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0054: 5784..5788
Feature /change: -aaaag
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0054; GI:23199992; LIG4C: 1543..1547
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49917; DNL4_HUMAN: 424..425
Feature /change: KR -> RRGNYGKTTS IHLQARQKRX
Age 14
Sex XX
Ethnic origin Japan
Parents Non-consanguineous
Symptoms Microcephaly
Symptoms Comments: proportional
Symptoms Developmental/growth delay:
Symptoms Primordial dwarfism
Symptoms Other clinical features: Poly dactyly, immunodeficiency,
Symptoms radiosensitivity
//
ID R278H(1),R278H(1); standard; MUTATION;
Accession L0009
Systematic name Allele 1 and 2: g.5347G>A, c.833G>A, r.833g>a,
Systematic name p.Arg278His
Description Allele 1 and 2: A point mutation in the exon 2 leading to
Description an amino acid change
Date 07-Sep-2006 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 10395545
RefAuthors Riballo, E., Critchlow, S. E., Teo, S. H., Doherty, A. J.,
RefAuthors Priestley, A., Broughton, B., Kysela, B., Beamish, H.,
RefAuthors Plowman, N., Arlett, C. F., Lehmann, A. R., Jackson, S.
RefAuthors P., Jeggo, P. A.
RefTitle Identification of a defect in DNA ligase IV in a
RefTitle radiosensitive leukaemia patient.
RefLoc Curr Biol:699-702 (1999)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0054: 5347
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 1106
Feature /codon: cgt -> cat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 278
Feature /change: R -> H
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0054: 4869
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 1106
Feature /codon: cgt -> cat; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 278
Feature /change: R -> H
Symptoms Other clinical features: Leukaemia, high sensitivity to
Symptoms radiotherapy
Comment No overt immunodeficiency displayed
//
ID Q280R(1a),#K424X443(1a); standard; MUTATION;
Accession L0007
Systematic name Allele 1: g.5353A>G, c.839A>G, r.839a>g, p.Gln280Arg
Systematic name Allele 2: g.5785_5789delAAAGA, c.1271_1275delAAAGA,
Systematic name r.1271_1275delaaaga, p.Lys424fsX20
Original code P1
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a frame shift deletion in the exon 2 leading to a
Description premature stop codon
Date 10-Jan-2006 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16358361
RefAuthors Buck, D., Moshous, D., de Chasseval, R., Ma, Y., le Deist,
RefAuthors F., Cavazzana-Calvo, M., Fischer, A., Casanova, J. L.,
RefAuthors Lieber, M. R., de Villartay, J. P.
RefTitle Severe combined immunodeficiency and microcephaly in
RefTitle siblings with hypomorphic mutations in DNA ligase IV.
RefLoc Eur J Immunol 36:224-235 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0054: 5353
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 1112
Feature /codon: caa -> cga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 280
Feature /change: Q -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0054: 5785..5789
Feature /change: -aaaga
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0054: 1544..1548
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 424..425
Feature /change: KR -> RRGNYGKTTS IHLQARQKRX
Symptoms Microcephaly
Symptoms Developmental/growth delay:
Symptoms Growth retardation
Symptoms Other clinical features: Repeated infections since the 3:rd
Symptoms month of life, including otitis, bronchiolitis, pneumonia
Symptoms and a sepsis caused by S. pneumoniae, lymphocytopenia.
Sex XX
Ethnic origin Morocco
Parents Non-consanguineous
Relative LIG4base; L0008 sister
Comment -!-Patient died of EBV-associated lymphoproliferative
Comment -!-syndrome 50 days after BMT.
//
ID Q280R(1b),#K424X443(1b); standard; MUTATION;
Accession L0008
Systematic name Allele 1: g.5353A>G, c.839A>G, r.839a>g, p.Gln280Arg
Systematic name Allele 2: g.5785_5789delAAAGA, c.1271_1275delAAAGA,
Systematic name r.1271_1275delaaaga, p.Lys424fsX20
Original code P2
Description Allele 1: a point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: a frame shift deletion in the exon 2 leading to a
Description premature stop codon
Date 10-Jan-2006 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16358361
RefAuthors Buck, D., Moshous, D., de Chasseval, R., Ma, Y., le Deist,
RefAuthors F., Cavazzana-Calvo, M., Fischer, A., Casanova, J. L.,
RefAuthors Lieber, M. R., de Villartay, J. P.
RefTitle Severe combined immunodeficiency and microcephaly in
RefTitle siblings with hypomorphic mutations in DNA ligase IV.
RefLoc Eur J Immunol 36:224-235 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0054: 5353
Feature /change: a -> g
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 1112
Feature /codon: caa -> cga; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 280
Feature /change: Q -> R
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0054: 5785..5789
Feature /change: -aaaga
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0054: 1544..1548
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 424..425
Feature /change: KR -> RRGNYGKTTS IHLQARQKRX
Symptoms Microcephaly
Symptoms Developmental/growth delay:
Symptoms Growth retardation
Symptoms Other clinical features: B and T cell lymphocytopenia
Sex XX
Ethnic origin Morocco
Parents Non-consanguineous
Relative LIG4base; L0007 sister
Comment -!-Patient died of veno-occlusive disease 2 months after
Comment -!-BMT.
//
ID H282L(1a),#K424X443(2a); standard; MUTATION;
Accession L0010
Systematic name Allele 1: g.5359A>T, c.845A>T, r.845a>u, p.His282Leu
Systematic name Allele 2: g.5785_5789delAAAGA, c.1271_1275delAAAGA,
Systematic name r.1271_1275delaaaga, p.Lys424fsX20
Original code P1
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Date 08-Sep-2006 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16585603
RefAuthors Enders, A., Fisch, P., Schwarz, K., Duffner, U., Pannicke,
RefAuthors U., Nikolopoulos, E., Peters, A., Orlowska-Volk, M.,
RefAuthors Schindler, D., Friedrich, W., Selle, B., Niemeyer, C.,
RefAuthors Ehl, S.
RefTitle A severe form of human combined immunodeficiency due to
RefTitle mutations in DNA ligase IV.
RefLoc J Immunol:5060-5068 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0054: 5359
Feature /change: a -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 1118
Feature /codon: cac -> ctc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 282
Feature /change: H -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0054: 5785..5789
Feature /change: -aaaga
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0054: 1544..1548
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 424..425
Feature /change: KR -> RRGNYGKTTS IHLQARQKRX
Sex XX
Ethnic origin Caucasoid; Germany
Parents Non-consanguineous
Relative LIG4base; L0011 sister
Symptoms Microcephaly
Symptoms Developmental/growth delay:
Symptoms Growth retardation
Symptoms Other clinical features: SCID with cellular
Symptoms radiosensitivity, chronic diarrhea, failure to thrive,
Symptoms autoimmune cytopenia, recurrent infections, pneumococcal
Symptoms sepsis two weeks after measles, mumps, and rubella
Symptoms vaccination, severe neutropenia and thrombocytopenia
Comment The patient developed rapidly progressive aspergillosis and
Comment died during preparative therapy for allogeneic stem cell
Comment transplantation
//
ID H282L(1b),#K424X443(2b); standard; MUTATION;
Accession L0011
Systematic name Allele 1: g.5359A>T, c.845A>T, r.845a>u, p.His282Leu
Systematic name Allele 2: g.5785_5789delAAAGA, c.1271_1275delAAAGA,
Systematic name r.1271_1275delaaaga, p.Lys424fsX20
Original code P2
Description Allele 1: A point mutation in the exon 2 leading to an
Description amino acid change
Description Allele 2: A frame shift deletion mutation in the exon 2
Description leading to a premature stop codon
Date 08-Sep-2006 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16585603
RefAuthors Enders, A., Fisch, P., Schwarz, K., Duffner, U., Pannicke,
RefAuthors U., Nikolopoulos, E., Peters, A., Orlowska-Volk, M.,
RefAuthors Schindler, D., Friedrich, W., Selle, B., Niemeyer, C.,
RefAuthors Ehl, S.
RefTitle A severe form of human combined immunodeficiency due to
RefTitle mutations in DNA ligase IV.
RefLoc J Immunol:5060-5068 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0054: 5359
Feature /change: a -> t
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 1118
Feature /codon: cac -> ctc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 282
Feature /change: H -> L
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0054: 5785..5789
Feature /change: -aaaga
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0054: 1544..1548
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 424..425
Feature /change: KR -> RRGNYGKTTS IHLQARQKRX
Sex XX
Ethnic origin Caucasoid; Germany
Parents Non-consanguineous
Relative LIG4base; L0010 sister
Symptoms Microcephaly
Comment At 4 mo of age she received a bone marrow transplant from a
Comment matched unrelated donor following nonmyeloablative
Comment conditioning with fludarabine and thiotepa. Three mo after
Comment transplantation she developed a severe hemolytic-uremic
Comment syndrome. The patient is clinically stable 8 mo after
Comment transplantation with full chimerism and ongoing thymic
Comment reconstitution. At 1 year of age she has a significant
Comment neurodevelopmental delay.
//
ID #Q433-1(1),#Q433-1(1); standard; MUTATION;
Accession L0006
Systematic name Allele 1 and 2: g.5811_5813delCAA, c.1297_1299delCAA,
Systematic name r.1297_1299delcaa, p.Gln433del
Original code SC2
Description Allele 1 and 2: an inframe deletion in the exon 2 leading
Description to an amino acid change
Date 10-Jan-2006 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16357942
RefAuthors van der Burg, M., van Veelen, L. R., Verkaik, N. S.,
RefAuthors Wiegant, W. W., Hartwig, N. G., Barendregt, B. H.,
RefAuthors Brugmans, L., Raams, A., Jaspers, N. G., Zdzienicka, M.
RefAuthors Z., van Dongen, J. J., van Gent, D. C.
RefTitle A new type of radiosensitive TBNK severe combined
RefTitle immunodeficiency caused by a LIG4 mutation.
RefLoc J Clin Invest 116:137-145 (2006)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: IDRefSeq: D0054: 5811..5813
Feature /change: -caa
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0054: 1570..1572
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 433
Feature /change: -Q
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: IDRefSeq: D0054: 5811..5813
Feature /change: -caa
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0054: 1570..1572
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 433
Feature /change: -Q
Protein exp. Absent
Symptoms Developmental/growth delay:
Symptoms Growth retardation
Symptoms Skin conditions:
Symptoms Other: Radiosensitivity
Symptoms Other clinical features: T-B-NK+ SCID. In the second year
Symptoms of life she began to suffer from severe infections of the
Symptoms respiratory tract, candidiasis in the diaper region, and
Symptoms subsequent chronic diarrhea and fever, and failure to
Symptoms thrive.
Sex XX
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
Comment -!-Patient died at the age of 2 years from a bradycardia
Comment -!-and respiratory arrest.
//
ID G469E(1),R814X(2); standard; MUTATION; ,BRCT2
Accession L0004
Systematic name Allele 1: g.5920G>A, c.1406G>A, r.1406g>a, p.Gly469Glu
Systematic name Allele 2: g.6954C>T, c.2440C>T, r.2440c>u, p.Arg814X
Original code Patient 99P0149
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 2 leading to a
Description premature stop codon in the BRCT2 domain
Date 05-Oct-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11779494
RefAuthors O'Driscoll, M., Cerosaletti, K. M., Girard, P. M., Dai,
RefAuthors Y., Stumm, M., Kysela, B., Hirsch, B., Gennery, A.,
RefAuthors Palmer, S. E., Seidel, J., Gatti, R. A., Varon, R.,
RefAuthors Oettinger, M. A., Neitzel, H., Jeggo, P. A., Concannon, P.
RefTitle DNA ligase IV mutations identified in patients exhibiting
RefTitle developmental delay and immunodeficiency.
RefLoc Mol Cell 8:1175-1185 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0054: 5920
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0054: 1679
Feature /codon: gga -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P49917; DNL4_HUMAN: 469
Feature /change: G -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0054: 6954
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0054: 2713
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49917; DNL4_HUMAN: 814
Feature /change: R -> X
Feature /domain: BRCT2
Symptoms Microcephaly
Symptoms Facial features:
Symptoms Seckel-like
Symptoms Developmental/growth delay:
Symptoms Developmental delay
Symptoms Primordial dwarfism
Symptoms Mental delay
Symptoms Immunodeficiency:
Symptoms Pancytopenia
Symptoms Skin conditions:
Symptoms Other: multiple psoriasiform erythrodermic, squamous
Symptoms skin patches
Symptoms Other clinical features: atypical bone maturation
//
ID R580X(1a),R814X(1a); standard; MUTATION; ,BRCT2
Accession L0001
Systematic name Allele 1: g.6252C>T, c.1738C>T, r.1738c>u, p.Arg580X
Systematic name Allele 2: g.6954C>T, c.2440C>T, r.2440c>u, p.Arg814X
Original code Patient 2303
Description Allele 1: a point mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the exon 2 leading to a
Description premature stop codon in the BRCT2 domain
Date 04-Oct-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11779494
RefAuthors O'Driscoll, M., Cerosaletti, K. M., Girard, P. M., Dai,
RefAuthors Y., Stumm, M., Kysela, B., Hirsch, B., Gennery, A.,
RefAuthors Palmer, S. E., Seidel, J., Gatti, R. A., Varon, R.,
RefAuthors Oettinger, M. A., Neitzel, H., Jeggo, P. A., Concannon, P.
RefTitle DNA ligase IV mutations identified in patients exhibiting
RefTitle developmental delay and immunodeficiency.
RefLoc Mol Cell 8:1175-1185 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0054: 6252
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0054: 2011
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49917; DNL4_HUMAN: 580
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0054: 6954
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0054: 2713
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49917; DNL4_HUMAN: 814
Feature /change: R -> X
Feature /domain: BRCT2
Symptoms Microcephaly
Symptoms Facial features
Symptoms Seckel-like
Symptoms Developmental/growth delay
Symptoms Growth retardation
Symptoms Immunodeficiency
Symptoms Pancytopenia
Symptoms Myelodysplasia
Symptoms Sinusitis
Symptoms Skin conditions
Symptoms Photosensitivity
Symptoms Telangiectasia
Symptoms Chronic skin conditions
Symptoms Other clinical features: hypothyroid, type II diabetes,
Symptoms hypogonadism
Relative LIG4base; L0002 sibling
//
ID R580X(1b),R814X(1b); standard; MUTATION; ,BRCT2
Accession L0002
Systematic name Allele 1: g.6252C>T, c.1738C>T, r.1738c>u, p.Arg580X
Systematic name Allele 2: g.6954C>T, c.2440C>T, r.2440c>u, p.Arg814X
Original code Patient 2304
Description Allele 1: a point mutation in the exon 2 leading to a
Description premature stop codon
Description Allele 2: a point mutation in the exon 2 leading to a
Description premature stop codon in the BRCT2 domain
Date 04-Oct-2004 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11779494
RefAuthors O'Driscoll, M., Cerosaletti, K. M., Girard, P. M., Dai,
RefAuthors Y., Stumm, M., Kysela, B., Hirsch, B., Gennery, A.,
RefAuthors Palmer, S. E., Seidel, J., Gatti, R. A., Varon, R.,
RefAuthors Oettinger, M. A., Neitzel, H., Jeggo, P. A., Concannon, P.
RefTitle DNA ligase IV mutations identified in patients exhibiting
RefTitle developmental delay and immunodeficiency.
RefLoc Mol Cell 8:1175-1185 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0054: 6252
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0054: 2011
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49917; DNL4_HUMAN: 580
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0054: 6954
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0054: 2713
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P49917; DNL4_HUMAN: 814
Feature /change: R -> X
Feature /domain: BRCT2
Symptoms Microcephaly
Symptoms Facial features
Symptoms Seckel-like
Symptoms Developmental/growth delay
Symptoms Growth retardation
Symptoms Immunodeficiency
Symptoms Chronic respiratory infections
Symptoms Skin conditions
Symptoms Photosensitivity
Symptoms Psoriasis
Symptoms Other clinical features: hypothyroid, amenorrhea
Sex XX
Relative LIG4base; L0001 sibling
//
ID R814X(3),R814X(3); standard; MUTATION; BRCT2,BRCT2
Accession L0005
Systematic name Allele 1 and 2: g.6954C>T, c.2440C>T, r.2440c>u, p.Arg814X
Description Allele 1 and 2: a point mutation in the exon 2 leading to a
Description premature stop codon in the BRCT2 domain
Date 19-Aug-2005 (Rel. 1, Created)
Date 29-Jan-2008 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 16088910
RefAuthors Ben-Omran, T. I., Cerosaletti, K., Concannon, P.,
RefAuthors Weitzman, S., Nezarati, M. M.
RefTitle A patient with mutations in DNA ligase IV: clinical
RefTitle features and overlap with nijmegen breakage syndrome.
RefLoc Am J Med Genet 137A:283-287(2005)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0054: 6954
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0054: 2713
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 814
Feature /change: R -> X
Feature /domain: BRCT2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0054: 6476
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 2
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0054: 2713
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: SWISSPROT: P49917; DNL4_HUMAN: 814
Feature /change: R -> X
Feature /domain: BRCT2
Symptoms Microcephaly
Symptoms Developmental/growth delay:
Symptoms Developmental delay
Symptoms Immunodeficiency:
Symptoms Pancytopenia
Symptoms Other clinical features: Acute lymphoplastic leukemia
Symptoms (CNS-III disease), asthma,
Sex XY
Age 4y9mo
Ethnic origin Caucasoid
Parents Non-consanguineous
Comment -!-Patient developed a high fever and died 6 weeks
Comment -!-following the initiation of chemotherapy. The cause of
Comment -!-death was presumed to be sepsis
//
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