Variant position: 554 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 R-NNKNFSTVDIQKNGVKFTN SKLTSLNEEYTKNKTEYEEAQ
Mouse R-NNKNFSTVDIQKNGVKFTN SELSSLNEEYTKNKGEYEEA
Rat R-NNKNFSTVDIQKNGVKFTN SELSSLNEEYTKNKGEYEEA
Bovine R-NNKNFSTVDIQKNGVKFTN SKLTSLNEEYTKNKTEYEEA
Drosophila R-KNKNYRIVDVIKGGVRFTS DKLEGYADEFASCRTRYEEQ
Slime mold R-DKKKYIVHATAKDGVRFAT REIDTLNEAYKKWSAEYLDK
Baker's yeast R-KHKKYIELSTVKAGIFFST KQLKSIANETNILQKEYDKQ
Fission yeast RGRSSHYTELSTQKNGVYFTT KRLHSLNNSYMDHQKSYRYH
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
555 – 555 N6-acetyllysine
567 – 567 N6-acetyllysine
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
Mueller-Koch Y.; Kopp R.; Lohse P.; Baretton G.; Stoetzer A.; Aust D.; Daum J.; Kerker B.; Gross M.; Dietmeier W.; Holinski-Feder E.;
Eur. J. Med. Res. 6:473-482(2001)
Cited for: VARIANTS HNPCC1 ASP-161; VAL-216 AND ARG-554;
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