Variant position: 574 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 KLSEELFYQILIYDFANFGV LRLSEPAPLFDLAMLALDSPE
Mouse KLSEELFYQILIYDFANFGV LRLSEPAPLFDLAMLALDSPE
Rat KLSEELFYQILIYDFANFGV LRLPEPAPLFDFAMLALDSPE
Slime mold NITKELFYQLSLLRFSDFDS IKFSQSLSIYSLLLVSLDSPL
Baker's yeast SVCYELFYQIGLTDFANFGK INLQSTNVSDDIVLYNLLSEF
Fission yeast KLSYHLFYQICLTEFGNYGE FVLETPLSISDLFEIV-----
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
410 – 650 Interaction with EXO1
572 – 581
Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC).
Han H.-J.; Maruyama M.; Baba S.; Park J.-G.; Nakamura Y.;
Hum. Mol. Genet. 4:237-242(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HNPCC2 LEU-542; PRO-574; VAL-582 AND THR-618;
The interaction of DNA mismatch repair proteins with human exonuclease I.
Schmutte C.; Sadoff M.M.; Shim K.-S.; Acharya S.; Fishel R.;
J. Biol. Chem. 276:33011-33018(2001)
Cited for: INTERACTION WITH EXO1 AND PMS2; CHARACTERIZATION OF VARIANTS HNPCC2 PRO-574; LYS-616 DEL; LEU-659 AND THR-681; CHARACTERIZATION OF VARIANT MMRCS LYS-616 DEL;
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 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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