Variant position: 342 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 GSQSLAALLNKCKTPQGQRL VNQWIKQPLMDKNRIEERLNL
Mouse GSQSLAALLNKCKTAQGQRL VNQWIKQPLMDRNRIEERLNL
Rat GSQSLAAFLNKCKTAQGQRL VSQWIKQPLMDKNRIEERLNL
Bovine GSQSLAALLNKCKTPQGQRL VNQWIKQPLMDKNRIEERLNL
Drosophila RWQSVLGVLDHCRTPQGHRL MGQWVKQPLRSRNILNDRHNI
Slime mold KDQSLYNLLNQCNTPMGSRL LLQWVKQPLLNAEEIEARLNF
Baker's yeast KVTSLFQLLNHCKTNAGVRL LNEWLKQPLTNIDEINKRHDL
Fission yeast KTMSLYGLLNHCRTAMGARN LRRWIVQPLLDAKSIERRHDL
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
336 – 347
Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
Colombino M.; Cossu A.; Arba A.; Manca A.; Curci A.; Avallone A.; Comella G.; Botti G.; Scintu F.; Amoruso M.; D'Abbicco D.; d'Agnessa M.R.; Spanu A.; Tanda F.; Palmieri G.;
Ann. Oncol. 14:1530-1536(2003)
Cited for: VARIANTS CRC ILE-13 AND ILE-342; VARIANT ASP-322;
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.