Variant position: 46 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 M--PEKPTTTVRLFDRGDFYTA HG-EDALLAAREVFKTQGVIKY--
Mouse M--PEKPSTTVRLFDRGDFYTA HG-EDALLAAREVFKTQGV
Rat M--PEKPSTTVGLFDRGDFYTA HG-EDALLAAREVFKTQGV
Bovine M--PEKPTTTVRLFDRGDFYTA HR-EDALLAAREVFKTQGV
Drosophila L--GEKPATTVRFFDHTDRYTV HGSDDCELVAKIVYKSTAF
Slime mold LVSSNEDTDTIRLFDRKGYYSI HG-EDAVFVAMMHFKSKKS
Baker's yeast L--PKKPLKTIRLVDKGDYYTV IG-SDAIFVADSVYHTQSV
Fission yeast M---PKDTNTVRVFDRGEFYVA IG-EDASFVAQNAYHTTSV
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
1 – 66 Missing. In isoform 2.
40 – 46
Microsatellite instability and the role of hMSH2 in sporadic colorectal cancer.
Bubb V.J.; Curtis L.J.; Cunningham C.; Dunlop M.G.; Carothers A.D.; Morris R.G.; White S.; Bird C.C.; Wyllie A.H.;
Cited for: VARIANT HNPCC1 GLN-46;
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
Barnetson R.A.; Cartwright N.; van Vliet A.; Haq N.; Drew K.; Farrington S.; Williams N.; Warner J.; Campbell H.; Porteous M.E.; Dunlop M.G.;
Hum. Mutat. 29:367-374(2008)
Cited for: VARIANTS GLN-46; LYS-106; ASP-322; SER-596; LEU-670; ILE-779; SER-807; HIS-835 AND ARG-911;
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.