Variant position: 660 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 934 The length of the canonical sequence.
Location on the sequence:
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 ACVEVQDEIAFIPNDVYFEK DKQMFHIITGPNMGGKSTYIR
Mouse ACVEVQDEVAFIPNDVHFEK DKQMFHIITGPNMGGKSTYIR
Rat ACVEVQHDVAFIPNDVHFEK DKQMFHIITGPNMGGKSTYIR
Bovine ACVEVQDEVAFIPNDVHFEK DKQMFHIITGPNMGGKSTYIR
Drosophila PCLELQEHVNFIANSVDFKK EECNMFIITGPNMGGKSTYIR
Slime mold PCVEIQDNVNFIANDIDLTR GQSQFQIITGPNMGGKSTFIR
Baker's yeast PVLEMQDDISFISNDVTLES GKGDFLIITGPNMGGKSTYIR
Fission yeast PCLEAQDDVKFIPNDVNLEH GSSELLIITGPNMGGKSTYIR
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
2 – 934 DNA mismatch repair protein Msh2
601 – 671 Interaction with EXO1
675 – 675 K -> R. No effect on mismatch binding, complete loss of DNA repair function when associated with MSH6 mutant R-1140.
659 – 661
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.
Taylor C.F.; Charlton R.S.; Burn J.; Sheridan E.; Taylor G.R.;
Hum. Mutat. 22:428-433(2003)
Cited for: VARIANTS HNPCC1 GLY-163 AND GLY-660;
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