UniProtKB/Swiss-Prot Q03468: Variant p.Arg1213Gly

DNA excision repair protein ERCC-6
Gene: ERCC6
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Variant information Variant position:

1213 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 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
Region	1181 – 1247	Disordered
Compositional bias	1211 – 1221	Basic and acidic residues

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;

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.