UniProtKB/Swiss-Prot P43246: Variant p.Met813Ile

DNA mismatch repair protein Msh2
Gene: MSH2
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Variant information Variant position:

813 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Methionine (M) to Isoleucine (I) at position 813 (M813I, p.Met813Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

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:

No effect on protein levels. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs587781678 [ dbSNP | Ensembl ]

Sequence information Variant position:

813 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

934 The length of the canonical sequence.
Location on the sequence:

QIPTVNNLHVTALTTEETLT M LYQVKKGVCDQSFGIHVAEL 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                         QIPTVNNLHVTALT---------TEETLTMLYQVKKGVCDQSFGIHVAEL

Mouse                         QIPTVNNLHVTALT---------TEETLTMLYQVKKGVCDQ

Rat                           QIPTVNNLHVTALT---------TEETLTMLYQVKTGVCDQ

Bovine                        QIPTVNNLHVTALT---------TEETLTMLYQVKKGVCDQ

Drosophila                    TLSTVKNCHMAAVA---------DADDFTLLYQVRSGVMEK

Slime mold                    LLPMVKNLHVSAST---------QNNTFTLLYKVEQGPCDQ

Baker's yeast                 KLPNVKNMHVVAHIEKNLKEQKHDDEDITLLYKVEPGISDQ

Fission yeast                 EITTVKNLHVTAYVGDS------ESKDVALLYNVCEGASDR

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.

Type	Positions	Description
Chain	2 – 934	DNA mismatch repair protein Msh2
Beta strand	810 – 820

Literature citations
Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.
Arora S.; Huwe P.J.; Sikder R.; Shah M.; Browne A.J.; Lesh R.; Nicolas E.; Deshpande S.; Hall M.J.; Dunbrack R.L. Jr.; Golemis E.A.;
Cancer Biol. Ther. 18:519-533(2017)
Cited for: VARIANTS GLN-5; GLY-55; PRO-534; ILE-813 AND ARG-839; CHARACTERIZATION OF VARIANTS GLN-5; GLY-55; PRO-534; ILE-813 AND ARG-839;

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.