Variant position: 674 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 DVYFEKDKQMFHIITGPNMG GKSTYIRQTGVIVLMAQIGCF
Mouse DVHFEKDKQMFHIITGPNMG GKSTYIRQTGVIVLMAQIGCF
Rat DVHFEKDKQMFHIITGPNMG GKSTYIRQTGVIVLMAQIGCF
Bovine DVHFEKDKQMFHIITGPNMG GKSTYIRQTGVVVLMAQIGCF
Drosophila SVDFKKEECNMFIITGPNMG GKSTYIRSVGTAVLMAHIGAF
Slime mold DIDLTRGQSQFQIITGPNMG GKSTFIRQVGLIVLMAQIGCF
Baker's yeast DVTLESGKGDFLIITGPNMG GKSTYIRQVGVISLMAQIGCF
Fission yeast DVNLEHGSSELLIITGPNMG GKSTYIRQVGVITVMAQIGCP
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
669 – 676 ATP
675 – 675 K -> R. No effect on mismatch binding, complete loss of DNA repair function when associated with MSH6 mutant R-1140.
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M.; Kariola R.; Nystroem M.;
Hum. Mutat. 32:107-115(2011)
Cited for: CHARACTERIZATION OF VARIANTS HNPCC1 PRO-33; MET-44; VAL-45; SER-127; MET-145; ASP-161; ARG-162; ARG-164; PRO-173; ARG-187; PRO-187; VAL-272; TYR-333; LEU-519; ASN-603; PRO-636; ALA-674; VAL-688; PHE-697; 745-ILE-ILE-746 DEL; LYS-749; THR-834; GLY-886 AND GLU-923; CHARACTERIZATION OF VARIANTS ASP-322 AND ILE-722; FUNCTION;
Mechanisms of pathogenicity in human MSH2 missense mutants.
Ollila S.; Dermadi Bebek D.; Jiricny J.; Nystroem M.;
Hum. Mutat. 29:1355-1363(2008)
Cited for: CHARACTERIZATION OF VARIANTS HNPCC1 PRO-33; SER-127; ASP-161; ARG-162; ARG-164; PRO-173; PRO-187; VAL-272; TYR-333; ASN-603; PRO-636; ALA-674; PHE-697; 745-ILE-ILE-746 DEL; LYS-749; THR-834 AND GLU-923; CHARACTERIZATION OF 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.