UniProtKB/SwissProt variant VAR

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

431
Type of variant:

LP/P [Disclaimer]
Residue change:

From Lysine (K) to Asparagine (N) at position 431 (K431N, p.Lys431Asn).
Physico-chemical properties:

Change from large size and basic (K) to medium size and polar (N)
BLOSUM score:

0
Variant description:

In SCAR26; may result in aberrant splicing.
Other resources:

Variant rs761564262 [ dbSNP | Ensembl ]

Sequence information Variant position:

431
Protein sequence length:

633
Location on the sequence:

EEDEASHSGGSGDEAPKLPQ K QPQTKTKPTQAAGPSSPQKP
Residue conservation:

Human                         EEDEASHSGGSGDEAPKLPQKQPQTKTKPTQAAGPSSPQKP

Mouse                         EDEGDSHSESGEDEAPKLPQKRPQPKAK-TQAAGPSSPPRP

Rat                           EDEGDSHSESGEDEAPKLPRKRPQPKAK-TQAAGPSSPPRP

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 633	DNA repair protein XRCC1
Region	400 – 462	Disordered
Modified residue	421 – 421	Phosphoserine
Modified residue	446 – 446	Phosphoserine
Modified residue	447 – 447	Phosphoserine

Literature citations
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Hoch N.C.; Hanzlikova H.; Rulten S.L.; Tetreault M.; Komulainen E.; Ju L.; Hornyak P.; Zeng Z.; Gittens W.; Rey S.A.; Staras K.; Mancini G.M.; McKinnon P.J.; Wang Z.Q.; Wagner J.D.; Yoon G.; Caldecott K.W.;
Nature 541:87-91(2017)
Cited for: INVOLVEMENT IN SCAR26; VARIANTS SCAR26 ASN-431 AND 465-GLN--ALA-633 DEL; SUBCELLULAR LOCATION; TISSUE SPECIFICITY;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P18887: Variant p.Lys431Asn