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UniProtKB/Swiss-Prot Q01831: Variant p.Pro334His

DNA repair protein complementing XP-C cells
Gene: XPC
Variant information

Variant position:  334
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
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 Proline (P) to Histidine (H) at position 334 (P334H, p.Pro334His).
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 medium size and hydrophobic (P) to medium size and polar (H)
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

Variant description:  In XP-C; severe; does not affect interaction with KAT2A and transcription coactivator activity in absence of DNA damage.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  334
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  940
The length of the canonical sequence.

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                         RLVLSLQPIPLKSATAK----------------------------------GKKPSKERLTADPGGSSETSSQVL

Mouse                         RLVLSLQPIPLKSAVTK------------------------


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.

Chain 2 – 940 DNA repair protein complementing XP-C cells
Region 327 – 519 Disordered
Alternative sequence 141 – 940 Missing. In isoform 3.

Literature citations

XPC is an RNA polymerase II cofactor recruiting ATAC to promoters by interacting with E2F1.
Bidon B.; Iltis I.; Semer M.; Nagy Z.; Larnicol A.; Cribier A.; Benkirane M.; Coin F.; Egly J.M.; Le May N.;
Nat. Commun. 9:2610-2610(2018)

Characterization of molecular defects in Xeroderma pigmentosum group C.
Li L.; Bales E.S.; Peterson C.A.; Legerski R.J.;
Nat. Genet. 5:413-417(1993)
Cited for: VARIANTS XP-C HIS-334 AND VAL-697 INS;

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.