UniProtKB/Swiss-Prot P43246: Variant p.Ile169Val

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

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

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:

From Isoleucine (I) to Valine (V) at position 169 (I169V, p.Ile169Val). 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:

3 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:

In LYNCH1 and CRC; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs63750716 [ dbSNP | Ensembl ]

Sequence information Variant position:

169 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:

GVKMSAVDGQRQVGVGYVDS I QRKLGLCEFPDNDQFSNLEA 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                         GVKMSAV-DGQRQVGVGYVDSIQRKLGLCEFPDNDQFSNLEA

Mouse                         GIKMAVV-DGQRHVGVGYVDSTQRKLGLCEFPENDQFSNLE

Rat                           GIKLSTV-DGQRQVGVGDVDSTQRKLGLCEFPDNDQFSNLE

Bovine                        GVKMSTV-DGQRQVGVGYVDSTQRKLGLCEFPDNDQFSNLE

Drosophila                    SLLVKLDGGGQRRVGVASVEQNDCKFQLLEFLDDDFFTELE

Slime mold                    ALKVTRE-KGSIVFGISFGDATFKTIGVSQFMDNDNLSNLS

Baker's yeast                 KVQWNSQ-DGNCIIGVAFIDTTAYKVGMLDIVDNEVYSNLE

Fission yeast                 AVTTRVK-QDQRIIGVAFIDPILKKLGVSEFVDSDAYTNFE

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
Turn	168 – 171

Literature citations
Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.
Yamada K.; Zhong X.; Kanazawa S.; Koike J.; Tsujita K.; Hemmi H.;
Oncol. Rep. 10:859-866(2003)
Cited for: VARIANTS CRC SER-40; VAL-169; ARG-203; PHE-390; LYS-419; CYS-619 AND ARG-629; VARIANT MET-8; Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.
Lee S.-C.; Guo J.-Y.; Lim R.; Soo R.; Koay E.; Salto-Tellez M.; Leong A.; Goh B.-C.;
Clin. Genet. 68:137-145(2005)
Cited for: VARIANTS LYNCH1 VAL-169; PHE-390; ALA-564 AND ARG-629; VARIANT CRC LYS-419;

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.