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UniProtKB/Swiss-Prot P43246: Variant p.Val161Asp

DNA mismatch repair protein Msh2
Gene: MSH2
Variant information

Variant position:  161
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Valine (V) to Aspartate (D) at position 161 (V161D, p.Val161Asp).
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:  Change from medium size and hydrophobic (V) to medium size and acidic (D)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  In HNPCC1; decreased mismatch repair activity; affects protein stability; loss of protein expression.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  161
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:   MSASIGVVGVKMSAVDGQRQ  V GVGYVDSIQRKLGLCEFPDN
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                         MSASIGVVGVKMSAV-DGQRQVGVGYVDSIQRKLGLCEFPDN

Mouse                         MSASVGVMGIKMAVV-DGQRHVGVGYVDSTQRKLGLCEFPE

Rat                           MATSIGIMGIKLSTV-DGQRQVGVGDVDSTQRKLGLCEFPD

Bovine                        MSASIGVVGVKMSTV-DGQRQVGVGYVDSTQRKLGLCEFPD

Drosophila                    VLVGNSIISLLVKLDGGGQRRVGVASVEQNDCKFQLLEFLD

Slime mold                    -CEGSVMMALKVTRE-KGSIVFGISFGDATFKTIGVSQFMD

Baker's yeast                 SSIIIASLKVQWNSQ-DGNCIIGVAFIDTTAYKVGMLDIVD

Fission yeast                 SSVSSVLLAVTTRVK-QDQRIIGVAFIDPILKKLGVSEFVD

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.

TypePositionsDescription
Chain 2 – 934 DNA mismatch repair protein Msh2
Beta strand 160 – 167


Literature citations

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;

Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms?
Mueller-Koch Y.; Kopp R.; Lohse P.; Baretton G.; Stoetzer A.; Aust D.; Daum J.; Kerker B.; Gross M.; Dietmeier W.; Holinski-Feder E.;
Eur. J. Med. Res. 6:473-482(2001)
Cited for: VARIANTS HNPCC1 ASP-161; VAL-216 AND ARG-554;

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Ollila S.; Sarantaus L.; Kariola R.; Chan P.; Hampel H.; Holinski-Feder E.; Macrae F.; Kohonen-Corish M.; Gerdes A.-M.; Peltomaeki P.; Mangold E.; de la Chapelle A.; Greenblatt M.; Nystroem M.;
Gastroenterology 131:1408-1417(2006)
Cited for: VARIANTS HNPCC1 PRO-33; ASP-161; ARG-162; ARG-164; PRO-173; PRO-187; TYR-333; ASN-603; PRO-636; PHE-697; 745-ILE-ILE-746 DEL AND LYS-749; VARIANTS VAL-272; THR-834 AND GLU-923; CHARACTERIZATION OF VARIANTS HNPCC1 PRO-33; ASP-161; ARG-162; ARG-164; PRO-173; PRO-187; TYR-333; ASN-603; PRO-636; PHE-697; 745-ILE-ILE-746 DEL AND LYS-749; CHARACTERIZATION OF VARIANTS VAL-272; THR-834 AND GLU-923;

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;

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.