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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P43246: Variant p.Asn127Ser

DNA mismatch repair protein Msh2
Gene: MSH2
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Variant information Variant position: help 127 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 Asparagine (N) to Serine (S) at position 127 (N127S, p.Asn127Ser). 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 (N) to small size and polar (S) 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; presumed to enhance cancer risk considerably when associated with P-328; shows significantly decreased repair efficiency when associated with variant P-328. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 127 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 AGNKASKENDWYLAYKASPG N LSQFEDILFGNNDMSASIGV 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                         AGNKASKENDWYLAYKASPGNLSQFEDILFGNN--------DMSASIGV

Mouse                         AGNKASKENEWYLAFKASPGNLSQFEDILFGNN--------

Rat                           AGNKASKENDWYLAYKASPGNLSQFEDILFGNN--------

Bovine                        AGNKASKENDWYLAFKASPGNLSQFEDILFGNN--------

Drosophila                    SSD-------WEIEYRGSPGNLLQFEDILFSNK--------

Slime mold                    PNSK----QQWELIKKGSPGNTQMFEDVLL-NG--------

Baker's yeast                 ----------WKLIKSASPGNIEQVNELMNMNI--------

Fission yeast                 SAKTG-----FELLKQASPGNMQMLEDLLVSENYQESTAIS

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
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MET-8; CYS-43; SER-127; ASP-322 AND PHE-390; Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M.; Kariola R.; Nystroem M.;
Hum. Mutat. 32:107-115(2011)
Cited for: CHARACTERIZATION OF VARIANTS LYNCH1 PRO-33; MET-44; VAL-45; SER-127; MET-145; ASP-161; ARG-162; ARG-164; PRO-173; ARG-187; PRO-187; VAL-272; TYR-333; LEU-519; ASN-603; PRO-636; ALA-674; VAL-688; PHE-697; 745-ILE-ILE-746 DEL; LYS-749; THR-834; GLY-886 AND GLU-923; CHARACTERIZATION OF VARIANTS ASP-322 AND ILE-722; FUNCTION; Genetic analysis of familial colorectal cancer in Israeli Arabs.
Chen-Shtoyerman R.; Theodor L.; Harmati E.; Friedman E.; Dacka S.; Kopelman Y.; Sternberg A.; Zarivach R.; Bar-Meir S.; Fireman Z.;
Hum. Mutat. 21:446-447(2003)
Cited for: VARIANT LYNCH1 SER-127; Mechanisms of pathogenicity in human MSH2 missense mutants.
Ollila S.; Dermadi Bebek D.; Jiricny J.; Nystroem M.;
Hum. Mutat. 29:1355-1363(2008)
Cited for: CHARACTERIZATION OF VARIANTS LYNCH1 PRO-33; SER-127; ASP-161; ARG-162; ARG-164; PRO-173; PRO-187; VAL-272; TYR-333; ASN-603; PRO-636; ALA-674; PHE-697; 745-ILE-ILE-746 DEL; LYS-749; THR-834 AND GLU-923; CHARACTERIZATION OF VARIANT ASP-322; Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.
Kantelinen J.; Kansikas M.; Candelin S.; Hampel H.; Smith B.; Holm L.; Kariola R.; Nystrom M.;
Hum. Mutat. 33:1294-1301(2012)
Cited for: CHARACTERIZATION OF VARIANTS SER-127; MET-145; GLN-205; ASP-322; PRO-328; ILE-367; GLU-487 AND ILE-909;
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.