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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43246: Variant p.Thr552Pro

DNA mismatch repair protein Msh2
Gene: MSH2
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Variant information Variant position: help 552 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 Threonine (T) to Proline (P) at position 552 (T552P, p.Thr552Pro). 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 (T) to medium size and hydrophobic (P) 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. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 552 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 VLRNNKNFSTVDIQKNGVKF T NSKLTSLNEEYTKNKTEYEE 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                         VLR-NNKNFSTVDIQKNGVKFTNSKLTSLNEEYTKNKTEYEE

Mouse                         VLR-NNKNFSTVDIQKNGVKFTNSELSSLNEEYTKNKGEYE

Rat                           VLR-NNKNFSTVDIQKNGVKFTNSELSSLNEEYTKNKGEYE

Bovine                        VLR-NNKNFSTVDIQKNGVKFTNSKLTSLNEEYTKNKTEYE

Drosophila                    VLR-KNKNYRIVDVIKGGVRFTSDKLEGYADEFASCRTRYE

Slime mold                    AIR-DKKKYIVHATAKDGVRFATREIDTLNEAYKKWSAEYL

Baker's yeast                 ELR-KHKKYIELSTVKAGIFFSTKQLKSIANETNILQKEYD

Fission yeast                 CLRGRSSHYTELSTQKNGVYFTTKRLHSLNNSYMDHQKSYR
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
Modified residue 555 – 555 N6-acetyllysine
Modified residue 567 – 567 N6-acetyllysine
Beta strand 549 – 552



Literature citations
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
Wagner A.; Barrows A.; Wijnen J.T.; van der Klift H.; Franken P.F.; Verkuijlen P.; Nakagawa H.; Geugien M.; Jaghmohan-Changur S.; Breukel C.; Meijers-Heijboer H.; Morreau H.; van Puijenbroek M.; Burn J.; Coronel S.; Kinarski Y.; Okimoto R.; Watson P.; Lynch J.F.; de la Chapelle A.; Lynch H.T.; Fodde R.;
Am. J. Hum. Genet. 72:1088-1100(2003)
Cited for: VARIANTS LYNCH1 PRO-552; SER-583 AND PRO-636;
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.