Sequence information
Variant position: 1213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1493 The length of the canonical sequence.
Location on the sequence:
EETLEKHLRPKQKPKNSKHC
R DAKFEGTRIPHLVKKRRYQK
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 EETLEKHLRPKQKPKNSKHCR DAKFEGTRIPHLVKKRRYQK
Mouse EETTEKRPQPKQKAKNSKHCR DAKFEGTRVPHLVKKRRYRQ
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 – 1493
DNA excision repair protein ERCC-6
Literature citations
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASP-399; ALA-425; ASP-446; MET-942; CYS-1002; ARG-1095; VAL-1097; GLY-1213; PRO-1230; LEU-1308; VAL-1322; ARG-1372; ARG-1382; ARG-1410; ARG-1413 AND ILE-1441;
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.