Variant position: 162 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 SASIGVVGVKMSAV-DGQRQV GVGYVDSIQRKLGLCEFPDND
Mouse SASVGVMGIKMAVV-DGQRHV GVGYVDSTQRKLGLCEFPEN
Rat ATSIGIMGIKLSTV-DGQRQV GVGDVDSTQRKLGLCEFPDN
Bovine SASIGVVGVKMSTV-DGQRQV GVGYVDSTQRKLGLCEFPDN
Drosophila LVGNSIISLLVKLDGGGQRRV GVASVEQNDCKFQLLEFLDD
Slime mold CEGSVMMALKVTRE-KGSIVF GISFGDATFKTIGVSQFMDN
Baker's yeast SIIIASLKVQWNSQ-DGNCII GVAFIDTTAYKVGMLDIVDN
Fission yeast SVSSVLLAVTTRVK-QDQRII GVAFIDPILKKLGVSEFVDS
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
160 – 167
Gene symbol: msh2. Disease: hereditary nonpolyposis colorectal cancer.
Hum. Genet. 119:675-675(2006)
Cited for: VARIANT HNPCC1 ALA-162;
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