Variant position: 359 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 QRLVNQWIKQPLMDKNRIEE RLNLVEAFVEDAELRQTLQED--
Mouse QRLVNQWIKQPLMDRNRIEE RLNLVEAFVEDSELRQSLQED
Rat QRLVSQWIKQPLMDKNRIEE RLNLVEAFVEDSELRRALQED
Bovine QRLVNQWIKQPLMDKNRIEE RLNLVEAFVEDAELRQNLQED
Drosophila HRLMGQWVKQPLRSRNILND RHNIVQCLLESPDTMETLSLD
Slime mold SRLLLQWVKQPLLNAEEIEA RLNFVEAFYNDLELRQSLRSN
Baker's yeast VRLLNEWLKQPLTNIDEINK RHDLVDYLIDQIELRQMLTSE
Fission yeast ARNLRRWIVQPLLDAKSIER RHDLVSALVEDAEARQLLLDD
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
353 – 367
Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression.
Scartozzi M.; Bianchi F.; Rosati S.; Galizia E.; Antolini A.; Loretelli C.; Piga A.; Bearzi I.; Cellerino R.; Porfiri E.;
J. Clin. Oncol. 20:1203-1208(2002)
Cited for: VARIANTS HNPCC1 HIS-167 AND SER-359;
MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.
Belvederesi L.; Bianchi F.; Galizia E.; Loretelli C.; Bracci R.; Catalani R.; Amati M.; Cellerino R.;
Hum. Mutat. 29:E296-E309(2008)
Cited for: CHARACTERIZATION OF VARIANTS HNPCC1 ARG-162; HIS-167 AND SER-359;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.