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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P52701: Variant p.Ser503Cys

DNA mismatch repair protein Msh6
Gene: MSH6
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Variant information Variant position: help 503 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 Serine (S) to Cysteine (C) at position 503 (S503C, p.Ser503Cys). 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 medium size and polar (C) 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 LYNCH5; uncertain significance; 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 503 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1360 The length of the canonical sequence.
Location on the sequence: help VEQTETPEMMEARCRKMAHI S KYDRVVRREICRIITKGTQT 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                         VEQTETPEMMEARCRKMAHISKYDRVVRREICRIITKGTQT

Mouse                         VEQTETPEMMEARCRKMAHVSKFDRVVRREICRIITKGTQT

Chicken                       VEQTETPEMMEARCKATAHTTKFDKVVRREICRIITKGTQT

Drosophila                    VEQTETPDMMTERCKRIK-ATKFDKVVAREICQITNRGTQV

Slime mold                    VDQMETSIGMAKRQNEKGGRNKKDSIIQRELTSILTAGT--

Baker's yeast                 VDQRESMLAKEMREGSKG-------IVKRELQCILTSGT--

Fission yeast                 VDQLETALGKEIKDRQRT--QKEEKVVQRGLTQVLTSGT--

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 1 – 1360 DNA mismatch repair protein Msh6
Modified residue 488 – 488 Phosphothreonine
Modified residue 504 – 504 N6-acetyllysine



Literature citations
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
Barnetson R.A.; Cartwright N.; van Vliet A.; Haq N.; Drew K.; Farrington S.; Williams N.; Warner J.; Campbell H.; Porteous M.E.; Dunlop M.G.;
Hum. Mutat. 29:367-374(2008)
Cited for: VARIANTS THR-13; LEU-65; ILE-144; HIS-468; CYS-503; LEU-580; ALA-878; LEU-1232 AND GLY-1321; 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 VARIANT LYNCH5 VAL-20; CHARACTERIZATION OF VARIANTS CRC HIS-976 AND ASP-1021; CHARACTERIZATION OF VARIANTS SER-25; VAL-326; VAL-396; VAL-492; CYS-503; ARG-522; ASN-610; CYS-850; ALA-878; TYR-1026; SER-1087 AND MET-1225;
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.