Variant position: 169 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 GVKMSAV-DGQRQVGVGYVDS IQRKLGLCEFPDNDQFSNLEA
Mouse GIKMAVV-DGQRHVGVGYVDS TQRKLGLCEFPENDQFSNLE
Rat GIKLSTV-DGQRQVGVGDVDS TQRKLGLCEFPDNDQFSNLE
Bovine GVKMSTV-DGQRQVGVGYVDS TQRKLGLCEFPDNDQFSNLE
Drosophila SLLVKLDGGGQRRVGVASVEQ NDCKFQLLEFLDDDFFTELE
Slime mold ALKVTRE-KGSIVFGISFGDA TFKTIGVSQFMDNDNLSNLS
Baker's yeast KVQWNSQ-DGNCIIGVAFIDT TAYKVGMLDIVDNEVYSNLE
Fission yeast AVTTRVK-QDQRIIGVAFIDP ILKKLGVSEFVDSDAYTNFE
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
168 – 171
Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.
Yamada K.; Zhong X.; Kanazawa S.; Koike J.; Tsujita K.; Hemmi H.;
Oncol. Rep. 10:859-866(2003)
Cited for: VARIANTS CRC SER-40; VAL-169; ARG-203; PHE-390; LYS-419; CYS-619 AND ARG-629; VARIANT MET-8;
Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.
Lee S.-C.; Guo J.-Y.; Lim R.; Soo R.; Koay E.; Salto-Tellez M.; Leong A.; Goh B.-C.;
Clin. Genet. 68:137-145(2005)
Cited for: VARIANTS HNPCC1 VAL-169; PHE-390; ALA-564 AND ARG-629; VARIANT CRC LYS-419;
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.