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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q03468: Variant p.Trp851Arg

DNA excision repair protein ERCC-6
Gene: ERCC6
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Variant information Variant position: help 851 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Tryptophan (W) to Arginine (R) at position 851 (W851R, p.Trp851Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and aromatic (W) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CSB; DNA-dependent ATPase-dead mutant; loss of chromatin remodeling activity; loss of its ability to inhibit non-homologous end joining-mediated repair and promote homologous recombination-mediated repair of DNA double-strand breaks; loss of its ability to suppress premature exit from G2/M checkpoint; abrogation of its UV-induced chromatin association. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 851 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1493 The length of the canonical sequence.
Location on the sequence: help QFGYWKRSGKMIVVESLLKI W HKQGQRVLLFSQSRQMLDIL The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         QFGYWKRSGKMIVVESLLKIWHKQGQRVLLFSQSRQMLDIL

Mouse                         QFGHWRRSGKMIVVESLLKIWHRQGQRVLLFSQSRQMLHIL
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 1 – 1493 DNA excision repair protein ERCC-6
Domain 843 – 1002 Helicase C-terminal
Helix 839 – 853



Literature citations
Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.
Batenburg N.L.; Thompson E.L.; Hendrickson E.A.; Zhu X.D.;
EMBO J. 34:1399-1416(2015)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT CSB ARG-851; ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.
Batenburg N.L.; Walker J.R.; Noordermeer S.M.; Moatti N.; Durocher D.; Zhu X.D.;
Nat. Commun. 8:1921-1921(2017)
Cited for: FUNCTION; INTERACTION WITH RIF1; DOMAIN; PHOSPHORYLATION AT SER-10 AND SER-158; MUTAGENESIS OF SER-10; SER-158; LEU-1470; TRP-1486 AND LEU-1488; CHARACTERIZATION OF VARIANT CSB ARG-851; Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Mallery D.L.; Tanganelli B.; Colella S.; Steingrimsdottir H.; van Gool A.J.; Troelstra C.; Stefanini M.; Lehmann A.R.;
Am. J. Hum. Genet. 62:77-85(1998)
Cited for: VARIANTS CSB TRP-670; ARG-851; GLY-957 AND LEU-1042; VARIANTS THR-255; ASP-399; ARG-1095; VAL-1097; GLY-1213 AND ARG-1413; Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V.; Dalloz C.; Durand M.; Sauvanaud F.; Kristensen U.; Vincent M.C.; Pasquier L.; Odent S.; Cormier-Daire V.; Gener B.; Tobias E.S.; Tolmie J.L.; Martin-Coignard D.; Drouin-Garraud V.; Heron D.; Journel H.; Raffo E.; Vigneron J.; Lyonnet S.; Murday V.; Gubser-Mercati D.; Funalot B.; Brueton L.; Sanchez Del Pozo J.; Munoz E.; Gennery A.R.; Salih M.; Noruzinia M.; Prescott K.; Ramos L.; Stark Z.; Fieggen K.; Chabrol B.; Sarda P.; Edery P.; Bloch-Zupan A.; Fawcett H.; Pham D.; Egly J.M.; Lehmann A.R.; Sarasin A.; Dollfus H.;
Hum. Mutat. 31:113-126(2010)
Cited for: VARIANTS CSB TRP-670; ASP-680; CYS-686; LEU-687; ARG-851; GLY-957 AND LEU-1042; VARIANTS COFS1 PRO-871 AND PRO-987; VARIANTS ARG-1095 AND GLY-1213;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.