Variant position: 394 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 932 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 ESSGKNYSNVD-TSVIP-----------------FQND MHNDESGKNTDDCLNHQ------ISIG
Slime mold TTPIKKHSTTTTTSSLNSPSSNKKSSNSTSSSSSSNNK NNR
Baker's yeast TGVIDKSNGTELTSVMD-----------------GNYT NVT
Fission yeast RSPCKR-------------------------------- ---
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
1 – 932 PMS1 protein homolog 1
Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.
Wang Q.; Lasset C.; Desseigne F.; Saurin J.-C.; Maugard C.; Navarro C.; Ruano E.; Descos L.; Trillet-Lenoir V.; Bosset J.-F.; Puisieux A.;
Hum. Genet. 105:79-85(1999)
Cited for: VARIANTS THR-394 AND ARG-501;
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