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UniProtKB/Swiss-Prot P52701: Variant p.Phe340Ser

DNA mismatch repair protein Msh6
Gene: MSH6
Chromosomal location: 2p16
Variant information

Variant position:  340
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Phenylalanine (F) to Serine (S) at position 340 (F340S, p.Phe340Ser).
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:  Change from large size and aromatic (F) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:10413423, ECO:0000269|PubMed:10537275, ECO:0000269|PubMed:10699937, ECO:0000269|PubMed:11153917, ECO:0000269|PubMed:11470537, ECO:0000269|PubMed:11709755, ECO:0000269|PubMed:11807791, ECO:0000269|PubMed:12522549, ECO:0000269|PubMed:14520694, ECO:0000269|PubMed:15483016, ECO:0000269|PubMed:22102614}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CRC, breast cancer and leukemia; unknown pathological significance.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  340
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1360
The length of the canonical sequence.

Location on the sequence:   PSATKQATSISSETKNTLRA  F SAPQNSESQAHVSGGGDDSS
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         PSATKQATSISSETKNTLRAFSAPQNSESQAHVSGGGDDSS

Mouse                         TGSAKRATPILSETKSTLSAFSAPQNSESQTHVSGGGNDSS

Chicken                       SEAPKRAAPVSLEAKSKLTLFAAPENFESQANACSGGT--N

Drosophila                    LESTIQLAEGATFQEKLKNLQSNAKQDASYDDIVTNTSNLD

Slime mold                    DDEQDDDEDDDDDDDDKKSKSTTTTAVKKKGNAFGKKDKKE

Baker's yeast                 RDNSKKKSRPNQAPSRSYNPSHSQPSATSKSSKFNKQN---

Fission yeast                 SPSPSVSGSASPTKSNKNGVLNREEKRRQRMEAFKKEN---

Sequence annotation in neighborhood:  
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


Literature citations

Sequence analysis of the mismatch repair gene hMSH6 in the germline of patients with familial and sporadic colorectal cancer.
Plaschke J.; Kruppa C.; Tischler R.; Bocker T.; Pistorius S.; Dralle H.; Rueschoff J.; Saeger H.D.; Fishel R.; Schackert H.K.;
Int. J. Cancer 85:606-613(2000)
Cited for: VARIANT CRC SER-340; VARIANT GLU-39;

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.