UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1213

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

Type of variant:

Polymorphism

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Arginine (R) to Glycine (G) at position 1213 (R1213G, p.Arg1213Gly).

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 basic (R) to glycine (G)

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

Other resources:

Links to websites of interest for the variant.

Variant rs2228527 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1213

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

Protein sequence length:

1493

The length of the canonical sequence.

Location on the sequence:

EETLEKHLRPKQKPKNSKHC R DAKFEGTRIPHLVKKRRYQK

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                         EETLEKHLRPKQKPKNSKHCRDAKFEGTRIPHLVKKRRYQK

Mouse                         EETTEKRPQPKQKAKNSKHCRDAKFEGTRVPHLVKKRRYRQ

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 – 1493	DNA excision repair protein ERCC-6

Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ASP-399; ALA-425; ASP-446; MET-942; CYS-1002; ARG-1095; VAL-1097; GLY-1213; PRO-1230; LEU-1308; VAL-1322; ARG-1372; ARG-1382; ARG-1410; ARG-1413 AND ILE-1441;

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.
Mallery D.L.; Tanganelli B.; Colella S.; Steingrimsdottir H.; van Gool A.J.; Troelstra C.; Stefanini M.; Lehmann A.R.;
Am. J. Hum. Genet. 62:77-85(1998)
Cited for: VARIANTS CSB TRP-670; ARG-851; GLY-957 AND LEU-1042; VARIANTS THR-255; ASP-399; ARG-1095; VAL-1097; GLY-1213 AND ARG-1413;

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V.; Dalloz C.; Durand M.; Sauvanaud F.; Kristensen U.; Vincent M.C.; Pasquier L.; Odent S.; Cormier-Daire V.; Gener B.; Tobias E.S.; Tolmie J.L.; Martin-Coignard D.; Drouin-Garraud V.; Heron D.; Journel H.; Raffo E.; Vigneron J.; Lyonnet S.; Murday V.; Gubser-Mercati D.; Funalot B.; Brueton L.; Sanchez Del Pozo J.; Munoz E.; Gennery A.R.; Salih M.; Noruzinia M.; Prescott K.; Ramos L.; Stark Z.; Fieggen K.; Chabrol B.; Sarda P.; Edery P.; Bloch-Zupan A.; Fawcett H.; Pham D.; Egly J.M.; Lehmann A.R.; Sarasin A.; Dollfus H.;
Hum. Mutat. 31:113-126(2010)
Cited for: VARIANTS CSB TRP-670; ASP-680; CYS-686; LEU-687; ARG-851; GLY-957 AND LEU-1042; VARIANTS COFS1 PRO-871 AND PRO-987; VARIANTS ARG-1095 AND GLY-1213;

UniProtKB/Swiss-Prot Q03468: Variant p.Arg1213Gly