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.
Location on the 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----------------------------------GKK PSKERLTADPGGSSETSSQVL
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
2 – 940 DNA repair protein complementing XP-C cells
327 – 519 Disordered
141 – 940 Missing. In isoform 3.
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)
Cited for: FUNCTION; INTERACTION WITH E2F1 AND KAT2A; CHARACTERIZATION OF VARIANT XP-C HIS-334;
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;
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