Variant position: 692 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 MGGKSTYIRQTGVIVLMAQI GCFVPCESAEVSIVDCILARV
Mouse MGGKSTYIRQTGVIVLMAQI GCFVPCESAEVSIVDCILARV
Rat MGGKSTYIRQTGVIVLMAQI GCFVPCESAEVSIVDCILARV
Bovine MGGKSTYIRQTGVVVLMAQI GCFVPCEWAEVSIVDCILARV
Drosophila MGGKSTYIRSVGTAVLMAHI GAFVPCSLATISMVDSILGRV
Slime mold MGGKSTFIRQVGLIVLMAQI GCFVPAQKATIAVVDCILSRV
Baker's yeast MGGKSTYIRQVGVISLMAQI GCFVPCEEAEIAIVDAILCRV
Fission yeast MGGKSTYIRQVGVITVMAQI GCPVPCEVADLDIIDAILARV
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
675 – 675 K -> R. No effect on mismatch binding, complete loss of DNA repair function when associated with MSH6 mutant R-1140.
Four novel MSH2 / MLH1 gene mutations in Portuguese HNPCC families.
Isidro G.; Veiga I.; Matos P.; Almeida S.; Bizarro S.; Marshall B.; Baptista M.; Leite J.; Regateiro F.; Soares J.; Castedo S.; Boavida M.G.;
Hum. Mutat. 15:116-116(2000)
Cited for: VARIANTS HNPCC1 ARG-692 AND ARG-697;
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