Variant position: 217 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 756 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 QGETVADVRTLPNASTVDN--I RSIFGNAVSRELIEIGCEDKT-----------------------
Mouse QGETVSDVRTLPNATTVDN--I RSIFGNAVSRELIEVGCED
Rat QGETVSDVRTLPNATTVDN--I RSIFGNAVSRELIEVGCED
Slime mold QGDPTPEVHTSGGQNSLEKDVI GSLYGTDLSKELKIITIDP
Baker's yeast FGDSNYSLSVKPSYTVQDR--I RTVFNKSVASNLITFHISK
Fission yeast VGDTVASLSLSSRLSKADK--I RHIYGPRVASHLRDFSLGE
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 – 756 DNA mismatch repair protein Mlh1
1 – 241 Missing. In isoform 2.
212 – 220
Germline mutations of hMLH1 and hMSH2 genes in Korean hereditary nonpolyposis colorectal cancer.
Han H.-J.; Yuan Y.; Ku J.-L.; Oh J.-H.; Won Y.-J.; Kang K.J.; Kim K.Y.; Kim S.; Kim C.Y.; Kim J.-P.; Oh N.-G.; Lee K.H.; Choe K.J.; Nakamura Y.; Park J.-G.;
J. Natl. Cancer Inst. 88:1317-1319(1996)
Cited for: VARIANTS HNPCC2 CYS-217; LEU-542; PRO-549 AND PRO-574;
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 HNPCC2 CYS-217;
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system.
Trojan J.; Zeuzem S.; Randolph A.; Hemmerle C.; Brieger A.; Raedle J.; Plotz G.; Jiricny J.; Marra G.;
Cited for: CHARACTERIZATION OF VARIANTS HNPCC2 MET-117; GLY-185; CYS-217; ASP-244 AND ALA-326; CHARACTERIZATION OF VARIANTS VAL-219 AND HIS-265;
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 HNPCC2 CYS-217; GLY-282; LEU-542; PRO-542; PRO-549; PRO-574; PRO-636; SER-640 AND MET-724;
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