Sequence information
Variant position: 194 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 396 The length of the canonical sequence.
Location on the sequence:
KSGSCSHILQGHRQEILAVS
W SPRYDYILATASADSRVKLW
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KSGSCSHILQGHRQEILAVSW SPRYDYILATASADSRVKLW
Mouse KSGSCSHILQGHRQEILAVSW SPRHDYILATASADSRVKLW
Bovine KSGSCSHILQGHRQEILAVSW SPRYEYILATASADSRAKLW
Sequence annotation in neighborhood: 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.
Type Positions Description
Chain
1 – 396
DNA excision repair protein ERCC-8
Repeat
177 – 216
WD 4
Alternative sequence
185 – 205
HRQEILAVSWSPRYDYILATA -> IFILFQTATTLSKRFNKKKRY. In isoform 2.
Beta strand
189 – 194
Literature citations
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 CSA THR-160; CYS-194; SER-202 AND GLY-266;
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.