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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43246: Variant p.Ser723Phe

DNA mismatch repair protein Msh2
Gene: MSH2
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Variant information Variant position: help 723 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 Serine (S) to Phenylalanine (F) at position 723 (S723F, p.Ser723Phe). 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 small size and polar (S) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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; decreased mismatch repair activity; has no effect on MSH2 splicing. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 723 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 SIVDCILARVGAGDSQLKGV S TFMAEMLETASILRSATKDS 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                         SIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSATKDS

Mouse                         SIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSATKDS

Rat                           SIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSATKDS

Bovine                        SIVDCILARVGAGDSQLKGVSTFMAEMLETASILRSATKDS

Drosophila                    SMVDSILGRVGASDNIIKGLSTFMVEMIETSGIIRTATDKS

Slime mold                    AVVDCILSRVGAGDSQLRGVSTFMAEMLETSYILKVATKNS

Baker's yeast                 AIVDAILCRVGAGDSQLKGVSTFMVEILETASILKNASKNS

Fission yeast                 DIIDAILARVGASDSQLKGISTFMAEMLETATILRAATPRS
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



Literature citations
Evaluation of screening strategy for detecting hereditary nonpolyposis colorectal carcinoma.
Furukawa T.; Konishi F.; Shitoh K.; Kojima M.; Nagai H.; Tsukamoto T.;
Cancer 94:911-920(2002)
Cited for: VARIANTS LYNCH1 VAL-600 AND PHE-723; A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Tournier I.; Vezain M.; Martins A.; Charbonnier F.; Baert-Desurmont S.; Olschwang S.; Wang Q.; Buisine M.P.; Soret J.; Tazi J.; Frebourg T.; Tosi M.;
Hum. Mutat. 29:1412-1424(2008)
Cited for: VARIANTS LYNCH1 LEU-92 DEL; ARG-199; ASP-331; GLU-470; ASN-610; GLY-638; GLU-645; LEU-696; TYR-748 AND GLN-839; VARIANTS VAL-272; ASN-596 DEL; TYR-671; ARG-697 AND PHE-723; CHARACTERIZATION OF VARIANTS LYNCH1 LEU-92 DEL; ARG-199; ASP-331; GLU-470; ASN-610; GLY-638; GLU-645; LEU-696; TYR-748 AND GLN-839; CHARACTERIZATION OF VARIANTS VAL-272; ASN-596 DEL; TYR-671; ARG-697 AND PHE-723; 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.