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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43246: Variant p.Ile216Val

DNA mismatch repair protein Msh2
Gene: MSH2
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Variant information Variant position: help 216 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 Isoleucine (I) to Valine (V) at position 216 (I216V, p.Ile216Val). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In LYNCH1; uncertain significance; shows slightly reduced mismatch binding or release efficiency. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 216 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 PKECVLPGGETAGDMGKLRQ I IQRGGILITERKKADFSTKD 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                         PKECVLP-------GGET-----AGDMGKLRQIIQRGGILITERKKADFSTKD

Mouse                         PKECVLP-------GGET-----TGDMGKLRQVIQRGGILI

Rat                           PKECILP-------GGET-----AGDMGKLRQVIQRGGILI

Bovine                        PKECVMP-------GGET-----AGDMGKLRQVIQRGGILI

Drosophila                    PKECLLPSI--------------EGEYSAVKTLLDRNGVMI

Slime mold                    VKECLLC-------CDQK-----NYDYQKVKEKLSDAGIPF

Baker's yeast                 VKECLVQDL---TSNSNS-----NAEMQKVINVIDRCGCVV

Fission yeast                 AKECIISQSGHESTNGNSAVSINTAEINRLRNIIEGCGALV

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
Helix 208 – 220



Literature citations
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 LYNCH1 ASP-161; VAL-216 AND ARG-554;
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.