Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43246: Variant p.Gln629Arg

DNA mismatch repair protein Msh2
Gene: MSH2
Feedback?
Variant information Variant position: help 629 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Glutamine (Q) to Arginine (R) at position 629 (Q629R, p.Gln629Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (Q) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In LYNCH1; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 629 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 934 The length of the canonical sequence.
Location on the sequence: help AHVSNGAPVPYVRPAILEKG Q GRIILKASRHACVEVQDEIA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         AHVSNGAPVPYVRPAIL-----EKGQG------------------------------RIILKASRHACVEVQDEIA

Mouse                         AHVSNAAPVPYVRPVIL-----EKGKG--------------

Rat                           AHVSNAAPVPYVRPVIL-----EKGKG--------------

Bovine                        AHVSDAAPVPYVRPVIL-----EKGRG--------------

Drosophila                    AIAARSAPTPYVRPKML-----EEGAR--------------

Slime mold                    SHVSSIAPIPFIRPEIIPLGSDENGAG--------------

Baker's yeast                 AHTSSYAPIPYIRPKLHP----MDSER--------------

Fission yeast                 AHASTVAVIPYVRPNIVDSSIAQEKHGQSSNILDIVSLEDT

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 934 DNA mismatch repair protein Msh2
Region 601 – 671 Interaction with EXO1



Literature citations
hMLH1 and hMSH2 mutations in families with familial clustering of gastric cancer and hereditary non-polyposis colorectal cancer.
Kim J.C.; Kim H.C.; Roh S.A.; Koo K.H.; Lee D.H.; Yu C.S.; Lee J.H.; Kim T.W.; Lee H.I.; Beck N.E.; Bodmer W.F.;
Cancer Detect. Prev. 25:503-510(2001)
Cited for: VARIANTS GASTRIC CANCER PHE-17; GLU-824; ALA-868; GLY-870 AND GLY-873; VARIANTS LYNCH1 CYS-98; TYR-323; ILE-335; ARG-629 AND VAL-714; 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; Germline mutations in MLH1, MSH2 and MSH6 in Korean hereditary non-polyposis colorectal cancer families.
Shin Y.-K.; Heo S.-C.; Shin J.-H.; Hong S.-H.; Ku J.-L.; Yoo B.-C.; Kim I.-J.; Park J.-G.;
Hum. Mutat. 24:351-351(2004)
Cited for: VARIANTS LYNCH1 LEU-440 DEL; TYR-506; ARG-629 AND ILE-688; Genetic characterization of Chinese hereditary non-polyposis colorectal cancer by DHPLC and multiplex PCR.
Yuan Y.; Huang Y.-Q.; Cai S.-R.; Song Y.-M.; Zheng S.; Zhang S.-Z.;
Jpn. J. Clin. Oncol. 34:660-666(2004)
Cited for: VARIANT LYNCH1 ARG-839; VARIANT ARG-629; 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 LYNCH1 VAL-169; PHE-390; ALA-564 AND ARG-629; VARIANT CRC LYS-419;
Disclaimer: 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.