Variant position: 385 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 SLTSSSTSGSSDKV---YAHQMV RTDSREQKLDAFLQPL---SKPLS
Mouse GVASSSTSGSGDKV---YAYQMV RTDSREQKLDAFLQPV--
Rat GIASSSTSGSGDKV---HAYQMV RTDSRDQKLDAFMQPV--
Slime mold NNNNNPTSRKEPIE---YAKDKI RSDSKSQTLDAFLNPMDY
Baker's yeast VENSYTTANSQLRKAKRQENKLV RIDASQAKITSFLSSSQQ
Fission yeast TKNAESSSQKAVRT---YENYLV RTDPRERSIKSMLS----
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
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;
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