Variant position: 326 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 NVHPTKHEVHFLHEESILER VQQHIESKLLGSNSSRMYFTQ
Mouse NVHPTKHEVHFLHEESILQR VQQHIESKLLGSNSSRMYFTQ
Rat NVHPTKHEVHFLHEESILER VQQHIESKLLGSNSSRMYFTQ
Slime mold NIHPTKSEVKILHEEQIIEF IQQKVDQELSISSNSKTFSTQ
Baker's yeast NVHPTKREVRFLSQDEIIEK IANQLHAELSAIDTSRTFKAS
Fission yeast NVHPSKRIVHFLYDQEIATS ICDKLGEILERTDTERSYPLQ
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
322 – 335
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.
Genuardi M.; Carrara S.; Anti M.; Ponz de Leon M.; Viel A.;
Eur. J. Hum. Genet. 7:778-782(1999)
Cited for: VARIANTS HIS-265; ALA-326; PRO-385; ASN-406; THR-618 AND MET-716;
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;
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Tournier I.; Vezain M.; Martins A.; Charbonnier F.; Baert-Desurmont S.; Olschwang S.; Wang Q.; Buisine M.P.; Soret J.; Tazi J.; Frebourg T.; Tosi M.;
Hum. Mutat. 29:1412-1424(2008)
Cited for: VARIANT HNPCC2 ILE-330 DEL; VARIANTS HIS-41; ARG-67; ARG-77; SER-98; SER-101; ASP-101; LYS-116; MET-117; ASN-126; MET-213; SER-215; SER-216; PHE-260; CYS-265; HIS-265; ASP-320; ALA-326; ILE-330 DEL; TRP-474; GLN-474; ASP-539; PRO-549; THR-551; ARG-585; ARG-603; HIS-607; PRO-619; SER-640; LEU-640; VAL-655; SER-656; ARG-666; THR-681 AND ARG-689;
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