Variant position: 246 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 ERKKADFSTKDIYQDLNRLL KGKKGEQMNSAVLPEMENQVA
Mouse ERKRADFSTKDIYQDLNRLL KGKKGEQINSAALPEMENQVA
Rat ERKRIDFSTKDIYQDLNRLL KGRKGEQMNSAVLPEMENQVA
Bovine ERKRADFSTKDIYQDLNRLL KGKKGEQVNSAVLPEMENQVA
Drosophila MPKKS--GDNDLLQDLNRLL RFAKGQQEDATGLKELQLQLA
Slime mold ELPKSDFSSKNAEQDLTRLL ----GSVKNN--LPDIEQEHA
Baker's yeast LLKNSEFSEKDVELDLTKLL ----GDDLALS-LPQKYSKLS
Fission yeast TIRSSEFSARDVELELSKVL ----DSPVTHALVPELGLQLA
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
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.
Genuardi M.; Carrara S.; Anti M.; Ponz de Leon M.; Viel A.;
Eur. J. Hum. Genet. 7:778-782(1999)
Cited for: VARIANTS HNPCC1 GLN-246; SER-596 AND THR-834; VARIANT ASP-322;
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