Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43246: Variant p.Asp167His

DNA mismatch repair protein Msh2
Gene: MSH2
Feedback?
Variant information Variant position: help 167 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Aspartate (D) to Histidine (H) at position 167 (D167H, p.Asp167His). 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 acidic (D) to medium size and polar (H) 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; shows reduced mismatch binding; does not show a decreased expression level of the MutS alpha complex; not associated with an abnormal subcellular localization pattern; normal mismatch repair activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 167 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 VVGVKMSAVDGQRQVGVGYV D SIQRKLGLCEFPDNDQFSNL 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                         VVGVKMSAV-DGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNL

Mouse                         VMGIKMAVV-DGQRHVGVGYVDSTQRKLGLCEFPENDQFSN

Rat                           IMGIKLSTV-DGQRQVGVGDVDSTQRKLGLCEFPDNDQFSN

Bovine                        VVGVKMSTV-DGQRQVGVGYVDSTQRKLGLCEFPDNDQFSN

Drosophila                    IISLLVKLDGGGQRRVGVASVEQNDCKFQLLEFLDDDFFTE

Slime mold                    MMALKVTRE-KGSIVFGISFGDATFKTIGVSQFMDNDNLSN

Baker's yeast                 SLKVQWNSQ-DGNCIIGVAFIDTTAYKVGMLDIVDNEVYSN

Fission yeast                 LLAVTTRVK-QDQRIIGVAFIDPILKKLGVSEFVDSDAYTN
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
Beta strand 160 – 167



Literature citations
Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer.
Moslein G.; Tester D.J.; Lindor N.M.; Honchel R.; Cunningham J.M.; French A.J.; Halling K.C.; Schwab M.; Goretzki P.; Thibodeau S.N.;
Hum. Mol. Genet. 5:1245-1252(1996)
Cited for: VARIANT LYNCH1 ASN-596 DEL; VARIANT HIS-167; HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.
Heinen C.D.; Wilson T.; Mazurek A.; Berardini M.; Butz C.; Fishel R.;
Cancer Cell 1:469-478(2002)
Cited for: VARIANTS LYNCH1 HIS-167; MET-393; PRO-524; ASN-596 DEL; LEU-622; SER-674 AND ARG-905; CHARACTERIZATION OF VARIANTS LYNCH1 HIS-167; MET-393; PRO-524; ASN-596 DEL; LEU-622; SER-674 AND ARG-905; Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression.
Scartozzi M.; Bianchi F.; Rosati S.; Galizia E.; Antolini A.; Loretelli C.; Piga A.; Bearzi I.; Cellerino R.; Porfiri E.;
J. Clin. Oncol. 20:1203-1208(2002)
Cited for: VARIANTS LYNCH1 HIS-167 AND SER-359; MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.
Belvederesi L.; Bianchi F.; Galizia E.; Loretelli C.; Bracci R.; Catalani R.; Amati M.; Cellerino R.;
Hum. Mutat. 29:E296-E309(2008)
Cited for: CHARACTERIZATION OF VARIANTS LYNCH1 ARG-162; HIS-167 AND SER-359; Functional analysis of HNPCC-related missense mutations in MSH2.
Lutzen A.; de Wind N.; Georgijevic D.; Nielsen F.C.; Rasmussen L.J.;
Mutat. Res. 645:44-55(2008)
Cited for: CHARACTERIZATION OF VARIANTS LYNCH1 HIS-167; THR-305: LEU-622; ARG-639; ARG-674; PHE-697 AND THR-834; A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
Drost M.; Zonneveld J.B.; van Hees S.; Rasmussen L.J.; Hofstra R.M.; de Wind N.;
Hum. Mutat. 33:488-494(2012)
Cited for: CHARACTERIZATION OF VARIANTS LYNCH1 MET-44; VAL-45; HIS-167; THR-305; PHE-390; ASN-596 DEL; ARG-639; ARG-674; PHE-697; PHE-723 AND GLY-886; CHARACTERIZATION OF VARIANTS ASP-165; HIS-177; VAL-272; LEU-385; LEU-519; ALA-675; GLU-759; VAL-805; GLY-843 AND LEU-860;
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.