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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P18887: Variant p.Gln399Arg

DNA repair protein XRCC1
Gene: XRCC1
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Variant information Variant position: help 399 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamine (Q) to Arginine (R) at position 399 (Q399R, p.Gln399Arg). 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: help Change from medium size and polar (Q) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Polymorphism: help Carriers of the polymorphic Gln-399 allele may be at greater risk for tobacco- and age-related DNA damage. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 399 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 633 The length of the canonical sequence.
Location on the sequence: help RIVRKEWVLDCHRMRRRLPS Q RYLMAGPGSSSEEDEASHSG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         RIVRKEWVLDCHRMRRRLPSQRYLMAGPGSSSEEDEASHSG

Mouse                         RIVRKEWVLDCHHMRRRLPSRRYLMAGLGSSSEDEGDSHSE

Rat                           RIVRKEWVLDCYRMRRRLPSRRYLMAGLGSSSEDEGDSHSE

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 633 DNA repair protein XRCC1
Domain 315 – 403 BRCT 1
Modified residue 408 – 408 Phosphoserine
Modified residue 409 – 409 Phosphoserine
Modified residue 410 – 410 Phosphoserine
Mutagenesis 385 – 385 W -> D. Strongly reduced binding to poly-ADP-ribose nuclear foci.
Mutagenesis 389 – 389 C -> A. Reduced binding to poly-ADP-ribose nuclear foci.
Helix 398 – 401



Literature citations
Molecular cloning of the human XRCC1 gene, which corrects defective DNA strand break repair and sister chromatid exchange.
Thompson L.H.; Brookman K.W.; Jones N.J.; Allen S.A.; Carrano A.V.;
Mol. Cell. Biol. 10:6160-6171(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ARG-399; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-72; LEU-161; TRP-194; HIS-280; ALA-304; SER-309; ARG-399 AND SER-576; Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans.
Shen M.R.; Jones I.M.; Mohrenweiser H.;
Cancer Res. 58:604-608(1998)
Cited for: VARIANTS TRP-194; HIS-280 AND ARG-399; Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells.
Duell E.J.; Wiencke J.K.; Cheng T.J.; Varkonyi A.; Zuo Z.F.; Ashok T.D.; Mark E.J.; Wain J.C.; Christiani D.C.; Kelsey K.T.;
Carcinogenesis 21:965-971(2000)
Cited for: VARIANT ARG-399; The XRCC1 Arg399Gln polymorphism, sunburn, and non-melanoma skin cancer: evidence of gene-environment interaction.
Nelson H.H.; Kelsey K.T.; Mott L.A.; Karagas M.R.;
Cancer Res. 62:152-155(2002)
Cited for: VARIANT ARG-399;
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.