Database DCLRE1Cbase
Version 1.1
File dclre1cpub.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/DCLRE1Cbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF5.html
Gene DCLRE1C
Disease Artemis deficiency
OMIM 605988
GDB 9836806
Sequence GenBank: NG_007276.1; GenBank: NM_001033855.1; UniProt: Q96SD1
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID A28P(1),A28P(1); standard; MUTATION;
Accession D0044
Systematic name Allele 1 and 2: g.5167G>C, c.82G>C, r.82g>c, p.Ala28Pro
Original code NF20P1
Description Allele 1 and 2: A point mutation in the exon 1 leading to
Description an amino acid change
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 5167
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 167
Feature /codon: gcc -> ccc; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 28
Feature /change: A -> P
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 5167
Feature /change: g -> c
Feature /genomic_region: exon; 1
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 167
Feature /codon: gcc -> ccc; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 28
Feature /change: A -> P
//
ID R81X(1),R81X(1); standard; MUTATION;
Accession D0001
Systematic name Allele 1 and 2: g.13986C>T, c.241C>T, r.241c>u, p.Arg81X
Original code P2; R74X(1),R74X(1)
Description Allele 1 and 2: point mutation in the exon 3 leading to a
Description premature stop codon
Date 03-Apr-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 13986
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 326
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 81
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 13986
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 326
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 81
Feature /change: R -> X
Protein DCLRE1C mutation
Ethnic origin Negroid; Africa
//
ID R81X(2),Deletion(1); standard; MUTATION;
Accession D0002
Systematic name Allele 1: g.13986C>T, c.241C>T, r.241c>u, p.Arg81X
Original code P1; R74X(2),Deletion(1)
Description Allele 1: point mutation in the exon 3 leading to a
Description premature stop codon
Description Allele 2: large deletion extended from exon 1 to exon 4
Date 03-Apr-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 13986
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 326
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 81
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: no protein
Protein DCLRE1C mutation
Ethnic origin Caucasoid; France
//
ID R81X(3),Intron 10(1); standard; MUTATION;
Accession D0003
Systematic name Allele 1: g.13986C>T, c.241C>T, r.241c>u, p.Arg81X
Systematic name Allele 2: g.IVS10+1G>A
Original code P4; R74X(3),Intron 10(1)
Description Allele 1: point mutation in the exon 3 leading to a
Description premature stop codon
Description Allele 2: point mutation in the intron 10 leading to a
Description inframe deletion
Date 03-Apr-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 13986
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 326
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 81
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 31081
Feature /change: g -> a
Feature /genomic_region: intron; 10
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; inframe
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 866..1057
Feature /change: -gcagaggaat attttcagtg gagcaaatta ccctgtggaa
Feature /change: ttacttccag aaatagaatt ccactccaca taatcagcat
Feature /change: taagccatcc accatgtggt ttggagaaag gagcagaaaa
Feature /change: acaaatgtaa ttgtgaggac tggagagagt tcatacagag
Feature /change: cttgtttttc ttttcactcc tcctacagtg ag
Feature /note: deletion of exons 10 and 11
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 261..324
Feature /change: -AEEYFQWSKL PCGITSRNRI PLHIISIKPS TMWFGERSRK
Feature /change: TNVIVRTGES SYRACFSFHS SYSE
Protein DCLRE1C mutation
Ethnic origin Caucasoid; Greek
//
ID #S94X95(1a),Deletion(20a); standard; MUTATION;
Accession D0036
Systematic name Allele 1: g.19261delC, c.281delC, r.281delc,
Systematic name p.Ser94fsX2
Systematic name Allele 2: c.(?_-38)_246+?del
Original code NF13P1
Description Allele 1: A frame shift deletion mutation in the exon
Description 4 leading to a premature stop codon
Description Allele 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 19261
Feature /change: -c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 366
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 94
Feature /change: S -> FX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Relative DCLRE1Cbase; D0037
//
ID #S94X95(1b),Deletion(20b); standard; MUTATION;
Accession D0037
Systematic name Allele 1: g.19261delC, c.281delC, r.281delc,
Systematic name p.Ser94fsX2
Systematic name Allele 2: c.(?_-38)_246+?del
Original code NF13P2
Description Allele 1: A frame shift deletion mutation in the exon
Description 4 leading to a premature stop codon
Description Allele 2: A point mutation at the intron 5 donor site
Description leads to aberrant splicing
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 19261
Feature /change: -c
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 366
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 94
Feature /change: S -> FX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Relative DCLRE1Cbase; D0036
//
ID #K103X117(1),Intron 11(1); standard; MUTATION;
Accession D0004
Systematic name Allele 1: g.22503_22660del, c.307_464del, r.307_464del,
Systematic name p.Lys103fsX15
Systematic name Allele 2: g.32254G>C, c.972+1G>C, r.972+1g>c
Original code P3; #K96X110(1),Intron 11(1)
Description Allele 1: deletion of the exons 5 and 6 leading to
Description aberrant splicing
Description Allele 2: point mutation in the intron 11 leading to
Description aberrant splicing
Date 04-Apr-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exons; 5-6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..549
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttatgttt ttatttcagg gcaataatgg
Feature /change: aactgtcctg tacacaggag acttcagatt ggcgcaagga
Feature /change: gaagctgcta gaatggagct tctgcactcc gggggcag
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..155
Feature /change: KEEIVVTLLP AGHCPGSVMF LFQGNNGTVL YTGDFRLAQG
Feature /change: EAARMELLHS GGR
Feature /change: -> SQRHPKCIFG YYVLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 32254
Feature /change: g -> c
Feature /genomic_region: intron; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1003..1057
Feature /change: -gactggagag agttcataca gagcttgttt ttcttttcac
Feature /change: tcctcctaca gtgag
Feature /note: deletion of exon 11
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 306..324
Feature /change: RTGESSYRAC FSFHSSYSE -> RLKISX
Protein DCLRE1C mutation
Ethnic origin Caucasoid; France
//
ID G118V(1),G118V(1); standard; MUTATION;
Accession D0014
Systematic name Allele 1 and 2: g.22549G>T, c.353G>T, r.353g>u, p.Gly118Val
Original code Artemis-2; G111V(1),G111V(1)
Description Allele 1 and 2: point mutation in the exon 5 leading to an
Description amino acid change
Date 10-Jun-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12406895
RefAuthors Noordzij, J. G., Verkaik, N. S., van der Burg, M., van
RefAuthors Veelen, L. R., de Bruin-Versteeg, S., Wiegant, W., Vossen,
RefAuthors J. M., Weemaes, C. M., de Groot, R., Zdzienicka, M. Z.,
RefAuthors van Gent, D. C., van Dongen, J. J.
RefTitle Radiosensitive SCID patients with artemis gene mutations
RefTitle show a complete B-cell differentiation arrest at the pre-B-
RefTitle cell receptor checkpoint in bone marrow.
RefLoc Blood 101:1446-1452 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22549
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 438
Feature /codon: gga -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 118
Feature /change: G -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22549
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 438
Feature /codon: gga -> gta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 118
Feature /change: G -> V
Sex XX
Parents Consanguineous
Symptoms Other clinical features: Infections at diagnosis; PCP, CMV
Treatment IVIG: constant
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
Treatment BMT-related problems: No B-cell take; receives IVIG
//
ID G118V(2),G118V(2); standard; MUTATION;
Accession D0045
Systematic name Allele 1 and 2: g.22549G>T, c.353G>T, r.353g>u, p.Gly118Val
Original code NF21P1
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22549
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 438
Feature /codon: gga -> gta; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 118
Feature /change: G -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22549
Feature /change: g -> t
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 438
Feature /codon: gga -> gta; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 118
Feature /change: G -> V
//
ID G135E(1a),G135E(1a); standard; MUTATION;
Accession D0015
Systematic name Allele 1 and 2: g.23573G>A, c.404G>A, r.404g>a, p.Gly135Glu
Original code Artemis-3.1; G128E(1a),G128E(1a)
Description Allele 1 and 2: point mutation in the exon 6 leading to an
Description amino acid change
Date 10-Jun-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12406895
RefAuthors Noordzij, J. G., Verkaik, N. S., van der Burg, M., van
RefAuthors Veelen, L. R., de Bruin-Versteeg, S., Wiegant, W., Vossen,
RefAuthors J. M., Weemaes, C. M., de Groot, R., Zdzienicka, M. Z.,
RefAuthors van Gent, D. C., van Dongen, J. J.
RefTitle Radiosensitive SCID patients with artemis gene mutations
RefTitle show a complete B-cell differentiation arrest at the pre-B-
RefTitle cell receptor checkpoint in bone marrow.
RefLoc Blood 101:1446-1452 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 23573
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 489
Feature /codon: gga -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 135
Feature /change: G -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 23573
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 489
Feature /codon: gga -> gaa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 135
Feature /change: G -> E
Sex XY
Relative DCLRE1Cbase; D0016 brother
Relative Other affected family members: Yes
Parents Non-consanguineous
Status quo Deceased; cause of death: disseminated infections
Symptoms Other clinical features: VZV infection
Treatment Bone marrow transplantation: Yes
Treatment Outcome
Treatment BMT-related problems: death
//
ID G135E(1b),G135E(1b); standard; MUTATION;
Accession D0016
Systematic name Allele 1 and 2: g.23573G>A, c.404G>A, r.404g>a, p.Gly135Glu
Original code Artemis-3.2; G128E(1b),G128E(1b)
Description Allele 1 and 2: point mutation in the exon 6 leading to an
Description amino acid change
Date 10-Jun-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12406895
RefAuthors Noordzij, J. G., Verkaik, N. S., van der Burg, M., van
RefAuthors Veelen, L. R., de Bruin-Versteeg, S., Wiegant, W., Vossen,
RefAuthors J. M., Weemaes, C. M., de Groot, R., Zdzienicka, M. Z.,
RefAuthors van Gent, D. C., van Dongen, J. J.
RefTitle Radiosensitive SCID patients with artemis gene mutations
RefTitle show a complete B-cell differentiation arrest at the pre-B-
RefTitle cell receptor checkpoint in bone marrow.
RefLoc Blood 101:1446-1452 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 23573
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 489
Feature /codon: gga -> gaa; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 135
Feature /change: G -> E
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 23573
Feature /change: g -> a
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 489
Feature /codon: gga -> gaa; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 135
Feature /change: G -> E
Sex XY
Relative DCLRE1Cbase; D0015 brother
Relative Other affected family members: Yes
Parents Non-consanguineous
Status quo Deceased; cause of death: multiorgan failure
Treatment Bone marrow transplantation: Yes
Treatment Outcome
Treatment BMT-related problems: death
//
ID D165V(1),D165V(1); standard; MUTATION;
Accession D0046
Systematic name Allele 1 and 2: g.24350A>T, c.494A>T, r.494a>u, p.Asp165Val
Original code NF22P1
Description Allele 1 and 2: A point mutation in the exon 7 leading to
Description an amino acid change
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 24350
Feature /change: a -> t
Feature /genomic_region: exon; 7
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 579
Feature /codon: gat -> gtt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 165
Feature /change: D -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 24350
Feature /change: a -> t
Feature /genomic_region: exon; 7
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 579
Feature /codon: gat -> gtt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 165
Feature /change: D -> V
//
ID #K260X284(1),#K260X284(1); standard; MUTATION;
Accession D0009
Systematic name Allele 1 and 2: g.26242delG, c.780delG, r.780delg,
Systematic name p.Ala261fsX24
Original code P16; #K253X277(1),#K253X277(1)
Description Allele 1 and 2: deletion in the exon 9 leading to a
Description premature stop codon
Date 04-Apr-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 26242
Feature /change: -g
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 865
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 260
Feature /change: K -> KQRNIFSGAN YPVELLPEIE FHSTX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 26242
Feature /change: -g
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 865
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 260
Feature /change: K -> KQRNIFSGAN YPVELLPEIE FHSTX
Protein DCLRE1C mutation
Ethnic origin Caucasoid; Italia
//
ID #K350X355(1),#K350X355(1); standard; MUTATION;
Accession D0041
Systematic name Allele 1 and 2: g.36104delA, c.1050delA, r.1050dela,
Systematic name p.Val351fsX5
Original code NF17P1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 12 leading to a premature stop codon
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 36104
Feature /change: -a
Feature /genomic_region: exon; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1135
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 350
Feature /change: K -> KLSKSX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 36104
Feature /change: -a
Feature /genomic_region: exon; 12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1135
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 350
Feature /change: K -> KLSKSX
//
ID #T380X399(1),#T380X399(1); standard; MUTATION;
Accession D0042
Systematic name Allele 1 and 2: g.39342_39348delAGTTCAC,
Systematic name c.1140_1146delAGTTCAC, r.1140_1146delaguucac, p.Val381fsX19
Original code NF18P1
Description Allele 1 and 2: A frame shift deletion mutation in the exon
Description 13 leading to a premature stop codon
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 39342..39348
Feature /change: -agttcac
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1225..1231
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 380..382
Feature /change: TVH -> TETQRRKMTI SLMILCQYLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 39342..39348
Feature /change: -agttcac
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1225..1231
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 380..382
Feature /change: TVH -> TETQRRKMTI SLMILCQYLX
//
ID R383X(1a),R383X(1a); standard; MUTATION;
Accession D0047
Systematic name Allele 1 and 2: g.39349C>T, c.1147C>T, r.1147c>u, p.Arg383X
Original code NF23P1
Description Allele 1 and 2: A point mutation in the exon 13 leading to
Description a premature stop codon
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 39349
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1232
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 383
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 39349
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1232
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 383
Feature /change: R -> X
Relative DCLRE1Cbase; D0048
//
ID R383X(1b),R383X(1b); standard; MUTATION;
Accession D0048
Systematic name Allele 1 and 2: g.39349C>T, c.1147C>T, r.1147c>u, p.Arg383X
Original code NF23P2
Description Allele 1 and 2: A point mutation in the exon 13 leading to
Description a premature stop codon
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 39349
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1232
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 383
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 39349
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 13
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1232
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 383
Feature /change: R -> X
Relative DCLRE1Cbase; D0047
//
ID #R430X447(1),#R430X447(1); standard; MUTATION;
Accession D0021
Systematic name Allele 1 and 2: g.49899_49915delACAAACCCCAGGATGCT,
Systematic name c.1290_1306delACAAACCCCAGGATGCT,
Systematic name r.1290_1306delacaaaccccaggaugcu, p.Thr432fsX16
Original code P72; #R423X440(1),#R423X440(1)
Description Allele 1 and 2: a frame shift deletion mutation in the exon
Description 14 leading to a premature stop codon
Date 20-Jun-2005 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12569164
RefAuthors Moshous, D., Pannetier, C., Chasseval Rd, R., Deist Fl,
RefAuthors F., Cavazzana-Calvo, M., Romana, S., Macintyre, E.,
RefAuthors Canioni, D., Brousse, N., Fischer, A., Casanova, J. L.,
RefAuthors Villartay, J. P.
RefTitle Partial T and B lymphocyte immunodeficiency and
RefTitle predisposition to lymphoma in patients with hypomorphic
RefTitle mutations in artemis.
RefLoc J Clin Invest 111:381-387 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 49899..49915
Feature /change: -acaaacccca ggatgct
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1375..1391
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 430..436
Feature /change: RQTPGCC -> RQSRVYAELS FHKLCRLX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 49899..49915
Feature /change: -acaaacccca ggatgct
Feature /genomic_region: exon; 14
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1375..1391
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 430..436
Feature /change: RQTPGCC -> RQSRVYAELS FHKLCRLX
Protein DCLRE1C mutation
Sex XX
Parents Consanguineous
Status quo Deceased; cause of death: liver cirrhosis
Symptoms Lower respiratory tract infections
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Cryptosporidium
Symptoms Other clinical features: failure to thrive, cholangitis,
Symptoms liver disease
//
ID #F449X461(1a),Deletion(5a); standard; MUTATION;
Accession D0018
Systematic name Allele 1: g.49955_49961delTTGTAGA, c.1346_1352delTTGTAGA,
Systematic name r.1346_1352deluuguaga, p.Asp451fsX11
Systematic name Allele 2: c.-84-?_246+?del
Original code P68; #F442X454(1a),Deletion(5a)
Description Allele 1: a frameshift deletion mutation in the exon 14
Description leading to a premature stop codon
Description Allele 2: a large deletion extended from exon 1 to
Description exon 3
Date 20-Jun-2005 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12569164
RefAuthors Moshous, D., Pannetier, C., Chasseval Rd, R., Deist Fl,
RefAuthors F., Cavazzana-Calvo, M., Romana, S., Macintyre, E.,
RefAuthors Canioni, D., Brousse, N., Fischer, A., Casanova, J. L.,
RefAuthors Villartay, J. P.
RefTitle Partial T and B lymphocyte immunodeficiency and
RefTitle predisposition to lymphoma in patients with hypomorphic
RefTitle mutations in artemis.
RefLoc J Clin Invest 111:381-387 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 49955..49961
Feature /change: -ttgtaga
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1431..1437
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 449..451
Feature /change: FVD -> FVKNPTVKVK KKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: no protein
Protein DCLRE1C mutation
Sex XY
Relative DCLRE1Cbase; D0019; sister
Relative DCLRE1Cbase; D0020; sister
Relative Other affected family members: Yes; phenotype:same
Parents Non-consanguineous
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Hematological abnormalities
Symptoms Anemia
Symptoms Thrombocytopenia
Symptoms Other clinical features: candidiasis, hypogammaglobulinemia
//
ID #F449X461(1b),Deletion(5b); standard; MUTATION;
Accession D0019
Systematic name Allele 1: g.49955_49961delTTGTAGA, c.1346_1352delTTGTAGA,
Systematic name r.1346_1352deluuguaga, p.Asp451fsX11
Systematic name Allele 2: c.-84-?_246+?del
Original code P69; #F442X454(1b),Deletion(5b)
Description Allele 1: a frameshift deletion mutation in the exon 14
Description leading to a premature stop codon
Description Allele 2: a large deletion extended from exon 1 to
Description exon 3
Date 20-Jun-2005 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12569164
RefAuthors Moshous, D., Pannetier, C., Chasseval Rd, R., Deist Fl,
RefAuthors F., Cavazzana-Calvo, M., Romana, S., Macintyre, E.,
RefAuthors Canioni, D., Brousse, N., Fischer, A., Casanova, J. L.,
RefAuthors Villartay, J. P.
RefTitle Partial T and B lymphocyte immunodeficiency and
RefTitle predisposition to lymphoma in patients with hypomorphic
RefTitle mutations in artemis.
RefLoc J Clin Invest 111:381-387 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 49955..49961
Feature /change: -ttgtaga
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1431..1437
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 449..451
Feature /change: FVD -> FVKNPTVKVK KKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: no protein
Protein DCLRE1C mutation
Sex XX
Relative DCLRE1Cbase; D0018; brother
Relative DCLRE1Cbase; D0020; sister
Relative Other affected family members: Yes; phenotype:same
Parents Non-consanguineous
Symptoms Lower respiratory tract infections
Symptoms Hematological abnormalities
Symptoms Anemia
Symptoms Thrombocytopenia
Symptoms Other clinical features: oral candidiasis, lymphocytopenia
Treatment IVIG: intermittent
Treatment Bone marrow transplantation: Yes
Treatment Donor: MUD
//
ID #F449X461(1c),Deletion(5c); standard; MUTATION;
Accession D0020
Systematic name Allele 1: g.49955_49961delTTGTAGA, c.1346_1352delTTGTAGA,
Systematic name r.1346_1352deluuguaga, p.Asp451fsX11
Systematic name Allele 2: c.-84-?_246+?del
Original code P70; #F442X454(1c),Deletion(5c)
Description Allele 1: a frameshift deletion mutation in the exon 14
Description leading to a premature stop codon
Description Allele 2: a large deletion extended from exon 1 to
Description exon 3
Date 20-Jun-2005 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12569164
RefAuthors Moshous, D., Pannetier, C., Chasseval Rd, R., Deist Fl,
RefAuthors F., Cavazzana-Calvo, M., Romana, S., Macintyre, E.,
RefAuthors Canioni, D., Brousse, N., Fischer, A., Casanova, J. L.,
RefAuthors Villartay, J. P.
RefTitle Partial T and B lymphocyte immunodeficiency and
RefTitle predisposition to lymphoma in patients with hypomorphic
RefTitle mutations in artemis.
RefLoc J Clin Invest 111:381-387 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 49955..49961
Feature /change: -ttgtaga
Feature /genomic_region: exon; 14
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 1431..1437
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 449..451
Feature /change: FVD -> FVKNPTVKVK KKX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: no protein
Protein DCLRE1C mutation
Sex XX
Relative DCLRE1Cbase; D0018; brother
Relative DCLRE1Cbase; D0019; sister
Relative Other affected family members: Yes; phenotype:same
Parents Non-consanguineous
Status quo Deceased; cause of death: sepsis associated with
Status quo respiratory failure
Symptoms Other clinical features: recurrent otitis, bronchopneumonia
Symptoms resulting in bronchiectasis, cerebral abscess caused by
Symptoms Toxoplasma gondii infection
//
ID Intron 5(1a),Intron 5(1a); standard; MUTATION;
Accession D0005
Systematic name Allele 1 and 2: g.22559G>T, c.362+1G>T, r.362+1g>u
Systematic name p.Lys103fsX7
Original code P5
Description Allele 1 and 2: point mutation in the intron 5 leading to
Description aberrant splicing
Date 04-Apr-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22559
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..447
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttat
Feature /note: deletion of exon 5
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..121
Feature /change: KEEIVVTLLP AGHCPGSVM -> VFISGQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22559
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..447
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttat
Feature /note: deletion of exon 5
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..121
Feature /change: KEEIVVTLLP AGHCPGSVM -> VFISGQX
Protein DCLRE1C mutation
Ethnic origin Caucasoid; Turkey
Relative DCLRE1Cbase; D0006 sibling
Relative DCLRE1Cbase; D0007 sibling
Relative Other affected family members: Yes
Parents Consanguineous
//
ID Intron 5(1b),Intron 5(1b); standard; MUTATION;
Accession D0006
Systematic name Allele 1 and 2: g.22559G>T, c.362+1G>T, r.362+1g>u
Systematic name p.Lys103fsX7
Original code P11
Description Allele 1 and 2: point mutation in the intron 5 leading to
Description aberrant splicing
Date 04-Apr-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22559
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..447
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttat
Feature /note: deletion of exon 5
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..121
Feature /change: KEEIVVTLLP AGHCPGSVM -> VFISGQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22559
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..447
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttat
Feature /note: deletion of exon 5
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..121
Feature /change: KEEIVVTLLP AGHCPGSVM -> VFISGQX
Protein DCLRE1C mutation
Ethnic origin Caucasoid; Turkey
Relative DCLRE1Cbase; D0005 sibling
Relative DCLRE1Cbase; D0007 sibling
Relative Other affected family members: Yes
Parents Consanguineous
//
ID Intron 5(1c),Intron 5(1c); standard; MUTATION;
Accession D0007
Systematic name Allele 1 and 2: g.22559G>T, c.362+1G>T, r.362+1g>u
Systematic name p.Lys103fsX7
Original code P12
Description Allele 1 and 2: point mutation in the intron 5 leading to
Description aberrant splicing
Date 04-Apr-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22559
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..447
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttat
Feature /note: deletion of exon 5
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..121
Feature /change: KEEIVVTLLP AGHCPGSVM -> VFISGQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22559
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..447
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttat
Feature /note: deletion of exon 5
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..121
Feature /change: KEEIVVTLLP AGHCPGSVM -> VFISGQX
Protein DCLRE1C mutation
Ethnic origin Caucasoid; Turkey
Relative DCLRE1Cbase; D0005 sibling
Relative DCLRE1Cbase; D0006 sibling
Relative Other affected family members: Yes
Parents Consanguineous
//
ID Intron 5(2),Intron 5(2); standard; MUTATION;
Accession D0008
Systematic name Allele 1 and 2: g.22559G>T, c.362+1G>T, r.362+1g>u
Systematic name p.Lys103fsX7
Original code P38
Description Allele 1 and 2: point mutation in the intron 5 leading to
Description aberrant splicing
Date 04-Apr-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22559
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..447
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttat
Feature /note: deletion of exon 5
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..121
Feature /change: KEEIVVTLLP AGHCPGSVM -> VFISGQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22559
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..447
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttat
Feature /note: deletion of exon 5
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..121
Feature /change: KEEIVVTLLP AGHCPGSVM -> VFISGQX
Protein DCLRE1C mutation
Ethnic origin Caucasoid; Turkey
Parents Consanguineous
//
ID Intron 5(3),Intron 5(3); standard; MUTATION;
Accession D0043
Systematic name Allele 1 and 2: g.22559G>T, c.362+1G>T, r.362+1g>u
Original code NF19P1
Description Allele 1 and 2: A point mutation at the intron 5 donor site
Description leads to aberrant splicing
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22559
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..447
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttat
Feature /inexloc: +1
Feature /note: deletion of exon 5
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..121
Feature /change: KEEIVVTLLP AGHCPGSVM -> VFISGQX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22559
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..447
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttat
Feature /inexloc: +1
Feature /note: deletion of exon 5
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..121
Feature /change: KEEIVVTLLP AGHCPGSVM -> VFISGQX
//
ID Intron 6(1),Intron 6(1); standard; MUTATION;
Accession D0051
Systematic name Allele 1 and 2: g.23634G>A, c.464+1G>A, r.464+1g>a
Description Allele 1 and 2: A point mutation in the intron 6 leading to
Description aberrant splicing
Date 20-Jul-2010 (Rel. 1, Created)
Date 20-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19967552
RefAuthors Rohr, J., Pannicke, U., Doring, M., Schmitt-Graeff, A.,
RefAuthors Wiech, E., Busch, A., Speckmann, C., Muller, I., Lang, P.,
RefAuthors Handgretinger, R., Fisch, P., Schwarz, K., Ehl, S.
RefTitle Chronic inflammatory bowel disease as key manifestation of
RefTitle atypical ARTEMIS deficiency.
RefLoc J Clin Immunol:314-320 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 23634
Feature /change: g -> a
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 23634
Feature /change: g -> a
Feature /genomic_region: intron; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Symptoms Upper respiratory tract infections
Symptoms Gastro-intestinal tract manifestations
Symptoms Protracted diarrhea
Symptoms Other clinical features: Chron's disease;
Sex XX
Ethnic origin Lebanon
Relative Both parents were heterozygous to the mutation.
Parents Consanguineous
IgA 67-280 mg/dl
IgG 791-1,210 mg/dl
IgM 101-308 mg/dl
Lymphocytes Lymphocytes
Lymphocytes at diagnosis:
Lymphocytes total lymphocytes: 761/µl/mm3
Treatment Steroids: intermittent
Treatment Effect on autoimmunity: good
//
ID Deletion(2),Deletion(2); standard; MUTATION;
Accession D0010
Original code P6
Description Allele 1 and 2: large deletion extended from exon 1 to
Description exon 4
Date 04-Apr-2003 (Rel. 1, Created)
Date 04-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /note: no protein
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: no protein
Protein DCLRE1C mutation
Ethnic origin Caucasoid; France
//
ID Deletion(3),Deletion(3); standard; MUTATION;
Accession D0011
Original code P15
Description Allele 1 and 2: large deletion extended from exon 1 to
Description exon 4
Date 04-Apr-2003 (Rel. 1, Created)
Date 04-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /note: no protein
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: no protein
Protein DCLRE1C mutation
Ethnic origin Caucasoid; France
Parents Consanguineous
//
ID Deletion(4),Deletion(4); standard; MUTATION;
Accession D0012
Original code P40
Description Allele 1 and 2: large deletion extended from exon 1 to
Description exon 4
Date 04-Apr-2003 (Rel. 1, Created)
Date 04-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Feature /note: no protein
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Feature /note: no protein
Protein DCLRE1C mutation
//
ID Deletion(6),Deletion(6); standard; MUTATION;
Accession D0013
Systematic name Allele 1 and 2: c.307-?_678+?del, p.Lys103_Val227del
Original code P47; #K96-0(1),#K96-0(1)
Description Allele 1 and 2: deletion in the exons 5-8 leading to an
Description inframe deletion
Date 04-Apr-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 11336668
RefAuthors Moshous, D., Callebaut, I., de Chasseval, R., Corneo, B.,
RefAuthors Cavazzana-Calvo, M., Le Deist, F., Tezcan, I., Sanal, O.,
RefAuthors Bertrand, Y., Philippe, N., Fischer, A., de Villartay, J.
RefAuthors P.
RefTitle Artemis, a novel DNA double-strand break repair/V(D)J
RefTitle recombination protein, is mutated in human severe combined
RefTitle immune deficiency.
RefLoc Cell 105:177-186 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exons; 5-8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..763
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttatgttt ttatttcagg gcaataatgg
Feature /change: aactgtcctg tacacaggag acttcagatt ggcgcaagga
Feature /change: gaagctgcta gaatggagct tctgcactcc gggggcagag
Feature /change: tcaaagacat ccaaagtgta tatttggata ctacgttctg
Feature /change: tgatccaaga ttttaccaaa ttccaagtcg ggaggagtgt
Feature /change: ttaagtggag tcttagagct ggtccgaagc tggatcactc
Feature /change: ggagcccgta ccatgttgtg tggctgaact gcaaagcggc
Feature /change: ttatggctat gaatatttgt tcaccaacct tagtgaagaa
Feature /change: ttaggagtcc ag
Feature /note: deletion of exons 5-8
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..226
Feature /change: -KEEIVVTLLP AGHCPGSVMF LFQGNNGTVL YTGDFRLAQG
Feature /change: EAARMELLHS GGRVKDIQSV YLDTTFCDPR FYQIPSREEC
Feature /change: LSGVLELVRS WITRSPYHVV WLNCKAAYGY EYLFTNLSEE LGVQ
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exons; 5-8
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: inframe deletion
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..763
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttatgttt ttatttcagg gcaataatgg
Feature /change: aactgtcctg tacacaggag acttcagatt ggcgcaagga
Feature /change: gaagctgcta gaatggagct tctgcactcc gggggcagag
Feature /change: tcaaagacat ccaaagtgta tatttggata ctacgttctg
Feature /change: tgatccaaga ttttaccaaa ttccaagtcg ggaggagtgt
Feature /change: ttaagtggag tcttagagct ggtccgaagc tggatcactc
Feature /change: ggagcccgta ccatgttgtg tggctgaact gcaaagcggc
Feature /change: ttatggctat gaatatttgt tcaccaacct tagtgaagaa
Feature /change: ttaggagtcc ag
Feature /note: deletion of exons 5-8
Feature aa; 6
Feature /rnalink: 5
Feature /name: deletion; inframe
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..226
Feature /change: -KEEIVVTLLP AGHCPGSVMF LFQGNNGTVL YTGDFRLAQG
Feature /change: EAARMELLHS GGRVKDIQSV YLDTTFCDPR FYQIPSREEC
Feature /change: LSGVLELVRS WITRSPYHVV WLNCKAAYGY EYLFTNLSEE LGVQ
Protein DCLRE1C mutation
Ethnic origin Caucasoid; France
Parents Consanguineous
//
ID Deletion(7),Deletion(7); standard; MUTATION;
Accession D0017
Systematic name Allele 1 and 2: c.781-?_1061+?del, p.Ala261fsX16
Original code Artemis-1;#A254X269(1),#A254X269(1)
Description Allele 1 and 2: deletion of exons 10-12 leading to frameshift
Description and a premature stop codon
Date 10-Jun-2003 (Rel. 1, Created)
Date 26-Jun-2009 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefCrossRef PUBMED; 12406895
RefAuthors Noordzij, J. G., Verkaik, N. S., van der Burg, M., van
RefAuthors Veelen, L. R., de Bruin-Versteeg, S., Wiegant, W., Vossen,
RefAuthors J. M., Weemaes, C. M., de Groot, R., Zdzienicka, M. Z.,
RefAuthors van Gent, D. C., van Dongen, J. J.
RefTitle Radiosensitive SCID patients with artemis gene mutations
RefTitle show a complete B-cell differentiation arrest at the pre-B-
RefTitle cell receptor checkpoint in bone marrow.
RefLoc Blood 101:1446-1452 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /genomic_region: exons; 10-12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 866..1146
Feature /change: -gcagaggaat attttcagtg gagcaaatta ccctgtggaa
Feature /change: ttacttccag aaatagaatt ccactccaca taatcagcat
Feature /change: taagccatcc accatgtggt ttggagaaag gagcagaaaa
Feature /change: acaaatgtaa ttgtgaggac tggagagagt tcatacagag
Feature /change: cttgtttttc ttttcactcc tcctacagtg agattaaaga
Feature /change: tttcttgagc tacctctgtc ctgtgaacgc atatccaaat
Feature /change: gtcattccag ttggcacaac tatggataaa gttgtcgaaa t
Feature /note: deletion of exons 10-12
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 261..354
Feature /change: AEEYFQWSKL PCGITSRNRI PLHIISIKPS TMWFGERSRK
Feature /change: TNVIVRTGES SYRACFSFHS SYSEIKDFLS YLCPVNAYPN
Feature /change: VIPVGTTMDK VVEI
Feature /change: -> LKAFMPVFPK YGAKVX
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /genomic_region: exons; 10-12
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: deletion; frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 866..1146
Feature /change: -gcagaggaat attttcagtg gagcaaatta ccctgtggaa
Feature /change: ttacttccag aaatagaatt ccactccaca taatcagcat
Feature /change: taagccatcc accatgtggt ttggagaaag gagcagaaaa
Feature /change: acaaatgtaa ttgtgaggac tggagagagt tcatacagag
Feature /change: cttgtttttc ttttcactcc tcctacagtg agattaaaga
Feature /change: tttcttgagc tacctctgtc ctgtgaacgc atatccaaat
Feature /change: gtcattccag ttggcacaac tatggataaa gttgtcgaaa t
Feature /note: deletion of exons 10-12
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 261..354
Feature /change: AEEYFQWSKL PCGITSRNRI PLHIISIKPS TMWFGERSRK
Feature /change: TNVIVRTGES SYRACFSFHS SYSEIKDFLS YLCPVNAYPN
Feature /change: VIPVGTTMDK VVEI
Feature /change: -> LKAFMPVFPK YGAKVX
Sex XX
Relative Other affected family members: Yes
Parents Consanguineous
Status quo Alive
Symptoms Other clinical features: PCP
Treatment Bone marrow transplantation: Yes
Treatment Outcome: alive and well
//
ID Deletion(8a),Deletion(8a); standard; MUTATION;
Accession D0022
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF1P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Relative DCLRE1Cbase; D0023
//
ID Deletion(8b),Deletion(8b); standard; MUTATION;
Accession D0023
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF1P2
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Relative DCLRE1Cbase; D0022
//
ID Deletion(9a),Deletion(9a); standard; MUTATION;
Accession D0024
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF2P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Relative DCLRE1Cbase; D0025
//
ID Deletion(9b),Deletion(9b); standard; MUTATION;
Accession D0025
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF2P2
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Relative DCLRE1Cbase; D0024
//
ID Deletion(10),Deletion(10); standard; MUTATION;
Accession D0026
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF3P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Deletion(11),Deletion(11); standard; MUTATION;
Accession D0027
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF4P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Deletion(12),Deletion(12); standard; MUTATION;
Accession D0028
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF5P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Deletion(13),Deletion(13); standard; MUTATION;
Accession D0029
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF6P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Deletion(14),Deletion(14); standard; MUTATION;
Accession D0030
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF7P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Deletion(15),Deletion(15); standard; MUTATION;
Accession D0031
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF8P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Deletion(16),Deletion(16); standard; MUTATION;
Accession D0032
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF9P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Deletion(17),Deletion(17); standard; MUTATION;
Accession D0033
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF10P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Deletion(18),Deletion(23); standard; MUTATION;
Accession D0034
Systematic name Allele 1: c.(?_-38)_246+?del
Systematic name Allele 2: c.(?_-38)_306+?del
Original code NF11P1
Description Allele 1: A large deletion extended from exon 1 to exon 3
Description Allele 4: A large deletion extended from exon 1 to exon 4
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Deletion(19),Deletion(19); standard; MUTATION;
Accession D0035
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF12P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Deletion(21),Intron 5(4); standard; MUTATION;
Accession D0038
Systematic name Allele 1: c.(?_-38)_246+?del
Systematic name Allele 2: g.22563G>C, c.362+5G>C, r.362+5g>c
Original code NF14P1
Description Allele 1: A large deletion extended from exon 1 to exon 3
Description Allele 2: A point mutation in the intron 5 leading to
Description aberrant splicing
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 22559
Feature /change: g -> t
Feature /genomic_region: intron; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 392..447
Feature /change: -aaggaagaga ttgttgtgac tctcttacca gctggtcact
Feature /change: gtccgggatc agttat
Feature /inexloc: +5
Feature /note: deletion of exon 5
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 103..121
Feature /change: KEEIVVTLLP AGHCPGSVM -> VFISGQX
//
ID Deletion(22),Deletion(22); standard; MUTATION;
Accession D0039
Systematic name Allele 1 and 2: c.(?_-38)_246+?del
Original code NF24P1
Description Allele 1 and 2: A large deletion extended from exon 1 to
Description exon 3
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /note: deletion of exons 1-3
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /note: no RNA
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
//
ID Deletion(24),H228N(1); standard; MUTATION;
Accession D0040
Systematic name Allele 1: c.(?_-38)_306+?del
Systematic name Allele 2: g.26144C>A, c.682C>A, r.682c>a, p.His228Asn
Original code NF15P1
Description Allele 1: A large deletion extended from exon 1 to exon 4
Description Allele 2: A point mutation in the exon 9 leading to
Description an amino acid change
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exons 1-4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /note: no RNA
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: GenBank: NG_007276.1: 26144
Feature /change: c -> a
Feature /genomic_region: exon; 9
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: GenBank: NM_001033855.1; GI:76496497; NM_001033855.1: 767
Feature /codon: cat -> aat; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: Q96SD1; DCR1C_HUMAN: 228
Feature /change: H -> N
//
ID Deletion(25a),Deletion(25a); standard; MUTATION;
Accession D0049
Systematic name Allele 1 and 2: g.23843_24981del, c.464+210_678+265del,
Systematic name r.464+210_678+265del
Original code NF16P1
Description Allele 1 and 2: A deletion in the intron 6 leading to
Description aberrant splicing
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 23843..24981
Feature /change: -ttcaggtgat ctgcccccct tggcctccca aagtgctggg
Feature /change: attacaggca tgagccactg tgcctggcct cttgtacagt
Feature /change: tcttctgtgt atgactgaat aaagttttat tgctctggcc
Feature /change: gggtgtaatc ccagcacttt gggagttctg gcctgtaatc
Feature /change: ccagcacttt gggaggctga ggtgggtgca tcacttgagg
Feature /change: ccaggagttc gagaccagcc tggtcaacat ggtgaaaccc
Feature /change: cgtctctact aaaaaataca aaaattagca aggtgtggtg
Feature /change: gcacaaaccc atgatcccag atagttggga ggctgaggta
Feature /change: ggagaattgc ttgaacccgg gaggtggagg aggtggtagt
Feature /change: gagcagacat tgcacttcag cctgggcaac agagcgaaac
Feature /change: tccatctcaa aaaacaaaaa aagttacaca taatttatat
Feature /change: cacattggat ggctaacatc aatttttttt cttttcagag
Feature /change: tcaaagacat ccaaagtgta tatttggata ctacgttctg
Feature /change: tgatccaaga ttttaccaaa ttccaagtcg ggtaagtctg
Feature /change: cctggaggaa cagggttatc atctgggtgt gcccgtgttt
Feature /change: ttagtaggaa gtttgtaggg tgacaggtca tatcctaact
Feature /change: gtccccgtag gtgtgagtac ctgggactgt tgggaaggaa
Feature /change: aaggctatgt gcggctctcc acctgttaaa tgtctcttta
Feature /change: aaatcctgtc taggaggagt gtttaagtgg agtcttagag
Feature /change: ctggtccgaa gctggatcac tcggagcccg taccatgttg
Feature /change: tgtggctgaa ctgcaaagcg gcttatggct atgaatatct
Feature /change: gttcaccaac cttagtgaag aattaggagt ccaggtatgg
Feature /change: tgactgttca ttcttttctt ttcttttttc tttttttttt
Feature /change: ttttttgaga gggagtcttg ctatgttgcc caggctggag
Feature /change: tgtagtgacg cgacctcggc tcactgcagc ctccacctcc
Feature /change: cgggttcaag caattctcct ggctcagcct cctgagtagc
Feature /change: tgggattaca ggcgtgagcc accatgccta gctaattttt
Feature /change: gtatttttag cacagacgac atttcaccat gttggccagg
Feature /change: ctggtcttga actcctgac
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +210
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 23843..24981
Feature /change: -ttcaggtgat ctgcccccct tggcctccca aagtgctggg
Feature /change: attacaggca tgagccactg tgcctggcct cttgtacagt
Feature /change: tcttctgtgt atgactgaat aaagttttat tgctctggcc
Feature /change: gggtgtaatc ccagcacttt gggagttctg gcctgtaatc
Feature /change: ccagcacttt gggaggctga ggtgggtgca tcacttgagg
Feature /change: ccaggagttc gagaccagcc tggtcaacat ggtgaaaccc
Feature /change: cgtctctact aaaaaataca aaaattagca aggtgtggtg
Feature /change: gcacaaaccc atgatcccag atagttggga ggctgaggta
Feature /change: ggagaattgc ttgaacccgg gaggtggagg aggtggtagt
Feature /change: gagcagacat tgcacttcag cctgggcaac agagcgaaac
Feature /change: tccatctcaa aaaacaaaaa aagttacaca taatttatat
Feature /change: cacattggat ggctaacatc aatttttttt cttttcagag
Feature /change: tcaaagacat ccaaagtgta tatttggata ctacgttctg
Feature /change: tgatccaaga ttttaccaaa ttccaagtcg ggtaagtctg
Feature /change: cctggaggaa cagggttatc atctgggtgt gcccgtgttt
Feature /change: ttagtaggaa gtttgtaggg tgacaggtca tatcctaact
Feature /change: gtccccgtag gtgtgagtac ctgggactgt tgggaaggaa
Feature /change: aaggctatgt gcggctctcc acctgttaaa tgtctcttta
Feature /change: aaatcctgtc taggaggagt gtttaagtgg agtcttagag
Feature /change: ctggtccgaa gctggatcac tcggagcccg taccatgttg
Feature /change: tgtggctgaa ctgcaaagcg gcttatggct atgaatatct
Feature /change: gttcaccaac cttagtgaag aattaggagt ccaggtatgg
Feature /change: tgactgttca ttcttttctt ttcttttttc tttttttttt
Feature /change: ttttttgaga gggagtcttg ctatgttgcc caggctggag
Feature /change: tgtagtgacg cgacctcggc tcactgcagc ctccacctcc
Feature /change: cgggttcaag caattctcct ggctcagcct cctgagtagc
Feature /change: tgggattaca ggcgtgagcc accatgccta gctaattttt
Feature /change: gtatttttag cacagacgac atttcaccat gttggccagg
Feature /change: ctggtcttga actcctgac
Feature /genomic_region: intron; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +210
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Relative DCLRE1Cbase; D0050
//
ID Deletion(25b),Deletion(25b); standard; MUTATION;
Accession D0050
Systematic name Allele 1 and 2: g.23843_24981del, c.464+210_678+265del,
Systematic name r.464+210_678+265del
Original code NF16P1
Description Allele 1 and 2: A deletion in the intron 6 leading to
Description aberrant splicing
Date 26-Jun-2009 (Rel. 1, Created)
Date 16-Feb-2010 (Rel. 1, Last updated, Version 2)
RefNumber [1]
RefLoc Submitted (03-Jun-2009) to DCLRE1Cbase.
RefLoc Dr. Ulrich Pannicke / Dr. Klaus Schwarz; University of Ulm,
RefLoc Institute for Transfusion Medicine, Helmholtzstrasse 10,
RefLoc 89081 Ulm, Germany; e-mail ulrich.pannicke@uni-ulm.de
RefNumber [2]
RefCrossRef PUBMED; 19953608
RefAuthors Pannicke, U., Honig, M., Schulze, I., Rohr, J., Heinz, G.
RefAuthors A., Braun, S., Janz, I., Rump, E. M., Seidel, M. G.,
RefAuthors Matthes-Martin, S., Soerensen, J., Greil, J., Stachel, D.
RefAuthors K., Belohradsky, B. H., Albert, M. H., Schulz, A., Ehl,
RefAuthors S., Friedrich, W., Schwarz, K.
RefTitle The most frequent DCLRE1C (ARTEMIS) mutations are based on
RefTitle homologous recombination events.
RefLoc Hum Mutat:197-207 (2010)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 23843..24981
Feature /change: -ttcaggtgat ctgcccccct tggcctccca aagtgctggg
Feature /change: attacaggca tgagccactg tgcctggcct cttgtacagt
Feature /change: tcttctgtgt atgactgaat aaagttttat tgctctggcc
Feature /change: gggtgtaatc ccagcacttt gggagttctg gcctgtaatc
Feature /change: ccagcacttt gggaggctga ggtgggtgca tcacttgagg
Feature /change: ccaggagttc gagaccagcc tggtcaacat ggtgaaaccc
Feature /change: cgtctctact aaaaaataca aaaattagca aggtgtggtg
Feature /change: gcacaaaccc atgatcccag atagttggga ggctgaggta
Feature /change: ggagaattgc ttgaacccgg gaggtggagg aggtggtagt
Feature /change: gagcagacat tgcacttcag cctgggcaac agagcgaaac
Feature /change: tccatctcaa aaaacaaaaa aagttacaca taatttatat
Feature /change: cacattggat ggctaacatc aatttttttt cttttcagag
Feature /change: tcaaagacat ccaaagtgta tatttggata ctacgttctg
Feature /change: tgatccaaga ttttaccaaa ttccaagtcg ggtaagtctg
Feature /change: cctggaggaa cagggttatc atctgggtgt gcccgtgttt
Feature /change: ttagtaggaa gtttgtaggg tgacaggtca tatcctaact
Feature /change: gtccccgtag gtgtgagtac ctgggactgt tgggaaggaa
Feature /change: aaggctatgt gcggctctcc acctgttaaa tgtctcttta
Feature /change: aaatcctgtc taggaggagt gtttaagtgg agtcttagag
Feature /change: ctggtccgaa gctggatcac tcggagcccg taccatgttg
Feature /change: tgtggctgaa ctgcaaagcg gcttatggct atgaatatct
Feature /change: gttcaccaac cttagtgaag aattaggagt ccaggtatgg
Feature /change: tgactgttca ttcttttctt ttcttttttc tttttttttt
Feature /change: ttttttgaga gggagtcttg ctatgttgcc caggctggag
Feature /change: tgtagtgacg cgacctcggc tcactgcagc ctccacctcc
Feature /change: cgggttcaag caattctcct ggctcagcct cctgagtagc
Feature /change: tgggattaca ggcgtgagcc accatgccta gctaattttt
Feature /change: gtatttttag cacagacgac atttcaccat gttggccagg
Feature /change: ctggtcttga actcctgac
Feature /genomic_region: intron; 6
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +210
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: deletion
Feature /loc: GenBank: NG_007276.1: 23843..24981
Feature /change: -ttcaggtgat ctgcccccct tggcctccca aagtgctggg
Feature /change: attacaggca tgagccactg tgcctggcct cttgtacagt
Feature /change: tcttctgtgt atgactgaat aaagttttat tgctctggcc
Feature /change: gggtgtaatc ccagcacttt gggagttctg gcctgtaatc
Feature /change: ccagcacttt gggaggctga ggtgggtgca tcacttgagg
Feature /change: ccaggagttc gagaccagcc tggtcaacat ggtgaaaccc
Feature /change: cgtctctact aaaaaataca aaaattagca aggtgtggtg
Feature /change: gcacaaaccc atgatcccag atagttggga ggctgaggta
Feature /change: ggagaattgc ttgaacccgg gaggtggagg aggtggtagt
Feature /change: gagcagacat tgcacttcag cctgggcaac agagcgaaac
Feature /change: tccatctcaa aaaacaaaaa aagttacaca taatttatat
Feature /change: cacattggat ggctaacatc aatttttttt cttttcagag
Feature /change: tcaaagacat ccaaagtgta tatttggata ctacgttctg
Feature /change: tgatccaaga ttttaccaaa ttccaagtcg ggtaagtctg
Feature /change: cctggaggaa cagggttatc atctgggtgt gcccgtgttt
Feature /change: ttagtaggaa gtttgtaggg tgacaggtca tatcctaact
Feature /change: gtccccgtag gtgtgagtac ctgggactgt tgggaaggaa
Feature /change: aaggctatgt gcggctctcc acctgttaaa tgtctcttta
Feature /change: aaatcctgtc taggaggagt gtttaagtgg agtcttagag
Feature /change: ctggtccgaa gctggatcac tcggagcccg taccatgttg
Feature /change: tgtggctgaa ctgcaaagcg gcttatggct atgaatatct
Feature /change: gttcaccaac cttagtgaag aattaggagt ccaggtatgg
Feature /change: tgactgttca ttcttttctt ttcttttttc tttttttttt
Feature /change: ttttttgaga gggagtcttg ctatgttgcc caggctggag
Feature /change: tgtagtgacg cgacctcggc tcactgcagc ctccacctcc
Feature /change: cgggttcaag caattctcct ggctcagcct cctgagtagc
Feature /change: tgggattaca ggcgtgagcc accatgccta gctaattttt
Feature /change: gtatttttag cacagacgac atttcaccat gttggccagg
Feature /change: ctggtcttga actcctgac
Feature /genomic_region: intron; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: unknown
Feature /inexloc: +210
Feature aa; 6
Feature /rnalink: 5
Feature /name: unknown
Relative DCLRE1Cbase; D0049
//
ID Deletion(26),Deletion(26); standard; MUTATION;
Accession D0052
Systematic name c.162-?_246+?del
Description Deletion of exon 3
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18241293
RefAuthors Loh, N. R., Jadresic, L. P., Whitelaw, A.
RefTitle A genetic cause for neonatal encephalopathy: incontinentia
RefTitle pigmenti with NEMO mutation.
RefLoc Acta Paediatr:379-381 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exon 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exon 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Symptoms Erythroderma; Protracted diarrhea;
Age 2 mo
Sex XY
Ethnic origin Japan
Parents Consanguineous
Family history de novo
IgA 2 mg/dl
IgE 3 IU/L
IgG 13 mg/dl
IgM 2 mg/dl
Treatment Bone marrow transplantation
Treatment Donor: MHC-identical mother
//
ID Deletion(27),Deletion(27); standard; MUTATION;
Accession D0053
Systematic name c.162-?_246+?del
Original code P.2
Description Deletion of exon 3
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12592555
RefAuthors Kobayashi, N., Agematsu, K., Sugita, K., Sako, M.,
RefAuthors Nonoyama, S., Yachie, A., Kumaki, S., Tsuchiya, S., Ochs,
RefAuthors H. D., Sugita, K., Fukushima, Y., Komiyama, A.
RefTitle Novel artemis gene mutations of radiosensitive severe
RefTitle combined immunodeficiency in japanese families.
RefLoc Hum Genet:348-352 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exon 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exon 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Status quo Alive
Symptoms Otitis; Diarrhea;
Age 3 mo
Sex XY
Ethnic origin Japan
Parents Consanguineous
IgA 2 mg/dl
IgG 13 mg/dl
IgM 2 mg/dl
Treatment Bone marrow transplantation
Treatment Outcome: alive and well
//
ID Deletion(28),Deletion(28); standard; MUTATION;
Accession D0054
Systematic name c.162-?_246+?del
Original code P.3
Description Deletion of exon 3
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12592555
RefAuthors Kobayashi, N., Agematsu, K., Sugita, K., Sako, M.,
RefAuthors Nonoyama, S., Yachie, A., Kumaki, S., Tsuchiya, S., Ochs,
RefAuthors H. D., Sugita, K., Fukushima, Y., Komiyama, A.
RefTitle Novel artemis gene mutations of radiosensitive severe
RefTitle combined immunodeficiency in japanese families.
RefLoc Hum Genet:348-352 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exon 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exon 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Status quo Deceased; cause of death: CMV infection
Symptoms Pneumonia;
Age 2 mo
Sex XY
Ethnic origin Japan
Parents Non-consanguineous
IgA <5 mg/dl
IgG 121 mg/dl
IgM <6 mg/dl
Treatment Bone marrow transplantation
Treatment Outcome: death
//
ID Deletion(29),?; standard; MUTATION;
Accession D0055
Systematic name Allele 1: c.162-?_246+?del
Original code P.4
Description Allele 1: Deletion of exon 3
Date 03-Aug-2010 (Rel. 1, Created)
Date 03-Aug-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12592555
RefAuthors Kobayashi, N., Agematsu, K., Sugita, K., Sako, M.,
RefAuthors Nonoyama, S., Yachie, A., Kumaki, S., Tsuchiya, S., Ochs,
RefAuthors H. D., Sugita, K., Fukushima, Y., Komiyama, A.
RefTitle Novel artemis gene mutations of radiosensitive severe
RefTitle combined immunodeficiency in japanese families.
RefLoc Hum Genet:348-352 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: deletion
Feature /note: deletion of exon 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 1
Feature /rnalink: 2
Feature /name: unknown
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Status quo Deceased; cause of death: Bronchiolitis obliterans
Symptoms Pneumonia; Diarrhea;
Age 4 mo
Sex XX
Ethnic origin Japan
Parents Non-consanguineous
IgA <1.3 mg/dl
IgG 43 mg/dl
IgM <0.9 mg/dl
Treatment Bone marrow transplantation
Treatment Outcome: death
//
//
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