UniProtKB/Swiss-Prot P28715: Variant p.Met254Val

DNA excision repair protein ERCC-5
Gene: ERCC5
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Variant information Variant position:

254 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 Valine (V) at position 254 (M254V, p.Met254Val). 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
Other resources:

Links to websites of interest for the variant.

Variant rs1047769 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1186 The length of the canonical sequence.
Location on the sequence:

LKGLLKKNYLNQHIEHVQKE M NQQHSGHIRRQYEDEGGFLK 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                         LKGLLKKNYLNQHIEHVQKEMNQQHSGHIRRQYEDEGGFLK

Mouse                         LKGLLKKNYLNQHIENVQKEMNQQHSGQIQRQYQDEGGFLK

Xenopus laevis                LKGLLKKNDLNKCIDNVRKELNQQYSGEVQAQFESEGGFLK

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	1 – 1186	DNA excision repair protein ERCC-5
Region	79 – 785	Spacer region
Alternative sequence	1 – 767	Missing. In isoform 2.
Alternative sequence	233 – 1186	Missing. In isoform 3.

Literature citations
An ERCC5 gene with homology to yeast RAD2 is involved in group G Xeroderma pigmentosum.
Shiomi T.; Harada Y.-N.; Saito T.; Shiomi N.; Okuno Y.; Yamaizumi M.;
Mutat. Res. 314:167-175(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS VAL-254; ARG-1053 AND ARG-1080; Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe.
Macinnes M.A.; Dickson J.A.; Hernandez R.R.; Learmonth D.; Lin G.Y.; Mudgett J.S.; Park M.S.; Schauer S.; Reynolds R.J.; Strniste G.F.; Yu J.Y.;
Mol. Cell. Biol. 13:6393-6402(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS VAL-254; ARG-1053 AND ARG-1080; Submission
Zan Q.; Guo J.H.; Yu L.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS VAL-254; ARG-1053 AND ARG-1080; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-181; VAL-254; ARG-256; CYS-311; LYS-399; SER-529; ILE-590; LEU-597; SER-879; HIS-1009 AND ARG-1053; ARG-1080 AND GLN-1080;

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.