Variant position: 513 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 KDPSLPAASSSSSSSKRGKK MCSDGEKAEKRSIAGIDQWLE
Mouse EPSSFPEASSSSSGCKRGKK VSSGAEEMADRKPAGVDQWLE
Drosophila KAPVLPKSVQNLRKDRRVMS TDDEGGSRLNRKTDASDMWVE
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
496 – 734 Interaction with RAD23B
141 – 940 Missing. In isoform 3.
531 – 531 W -> A. Slightly diminishes repair activity and slightly impairs DNA binding.
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.