Variant position: 939 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 GPKKTKREKKAAASHLFPFE QL
Mouse YTKMTRKRRAAEASHLFPFE KL
Drosophila -------------------- --
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
816 – 940 Interaction with ERCC2 and GTF2H1
866 – 940 Disordered
141 – 940 Missing. In isoform 3.
Purification and cloning of a nucleotide excision repair complex involving the Xeroderma pigmentosum group C protein and a human homologue of yeast RAD23.
Masutani C.; Sugasawa K.; Yanagisawa J.; Sonoyama T.; Ui M.; Enomoto T.; Takio K.; Tanaka K.; van der Spek P.J.; Bootsma D.; Hoeijmakers J.H.J.; Hanaoka F.;
EMBO J. 13:1831-1843(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PROTEIN SEQUENCE OF 2-55; VARIANTS VAL-499 AND LYS-939;
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.
Khan S.G.; Muniz-Medina V.; Shahlavi T.; Baker C.C.; Inui H.; Ueda T.; Emmert S.; Schneider T.D.; Kraemer K.H.;
Nucleic Acids Res. 30:3624-3631(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-499 AND LYS-939; ALTERNATIVE SPLICING;
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-16; PHE-48; ARG-86; GLN-314; HIS-492; VAL-499; ILE-513; GLU-632; HIS-671; MET-689; GLN-928 AND LYS-939;
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.