Variant position: 688 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 TGPNMGGKSTYIRQTGVIVL MAQIGCFVPCESAEVSIVDCI
Mouse TGPNMGGKSTYIRQTGVIVL MAQIGCFVPCESAEVSIVDCI
Rat TGPNMGGKSTYIRQTGVIVL MAQIGCFVPCESAEVSIVDCI
Bovine TGPNMGGKSTYIRQTGVVVL MAQIGCFVPCEWAEVSIVDCI
Drosophila TGPNMGGKSTYIRSVGTAVL MAHIGAFVPCSLATISMVDSI
Slime mold TGPNMGGKSTFIRQVGLIVL MAQIGCFVPAQKATIAVVDCI
Baker's yeast TGPNMGGKSTYIRQVGVISL MAQIGCFVPCEEAEIAIVDAI
Fission yeast TGPNMGGKSTYIRQVGVITV MAQIGCPVPCEVADLDIIDAI
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.
675 – 691
Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer.
Yuan Y.; Han H.-J.; Zheng S.; Park J.-G.;
Dis. Colon Rectum 41:434-440(1998)
Cited for: VARIANT CRC TYR-506; VARIANT HNPCC1 ILE-688;
Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.
Nomura S.; Sugano K.; Kashiwabara H.; Taniguchi T.; Fukayama N.; Fujita S.; Akasu T.; Moriya Y.; Ohhigashi S.; Kakizoe T.; Sekiya T.;
Biochem. Biophys. Res. Commun. 271:120-129(2000)
Cited for: VARIANTS HNPCC1 ILE-688 AND GLU-845; VARIANT MET-8;
Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
Shin Y.-K.; Heo S.-C.; Shin J.-H.; Hong S.-H.; Ku J.-L.; Yoo B.-C.; Kim I.-J.; Park J.-G.;
Hum. Mutat. 24:351-351(2004)
Cited for: VARIANTS HNPCC1 LEU-440 DEL; TYR-506; ARG-629 AND ILE-688;
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