UniProtKB/Swiss-Prot P18887: Variant p.Arg280His

DNA repair protein XRCC1
Gene: XRCC1
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Variant information Variant position:

280 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 Histidine (H) at position 280 (R280H, p.Arg280His). 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 medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

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:

Links to websites of interest for the variant.

Variant rs25489 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KPPAQLSPSVPKRPKLPAPT R TPATAPVPARAQGAVTGKPR 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                         KPPAQLSPSVPKRPKLPAPTRTPATAPVPARAQGAVTGKPR

Mouse                         KPSA--GPSTLKRPKLSVPSRTPAAAPASTPAQRAVPGKPR

Rat                           KPSA--GPPAPKRPKLPVPSRTPAATPASTPAQKAVPGKPR

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 – 633	DNA repair protein XRCC1
Region	221 – 313	Disordered
Compositional bias	263 – 283	Pro residues
Modified residue	266 – 266	Phosphoserine
Modified residue	281 – 281	Phosphothreonine

Literature citations
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;

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.