Sequence information
Variant position: 692 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 713 The length of the canonical sequence.
Location on the sequence:
QVVSAVSHQGKRNPKSPLAC
T NKRPRPEGMQTLESFFKPLT
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 QVVSAVSHQGKRNPKSPLACT NKRPRP------EGMQTLESFFKPLT
Mouse QAIPAVSPQGKRNPKSPSASS SKRLRP------HGMQTLES
Drosophila RTRTAALNKEKISPVQPKKQS QKKLNSTISASSSGTKTIAQ
Baker's yeast SFGEKRLLFSRKRPNSQHTAT PQKKQV------TSSKNILS
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
Chain
1 – 713
DNA polymerase eta
Region
677 – 705
Disordered
Cross
682 – 682
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross
686 – 686
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross
694 – 694
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Cross
709 – 709
Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence
415 – 713
Missing. In isoform 2.
Literature citations
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
Opletalova K.; Bourillon A.; Yang W.; Pouvelle C.; Armier J.; Despras E.; Ludovic M.; Mateus C.; Robert C.; Kannouche P.; Soufir N.; Sarasin A.;
Hum. Mutat. 35:117-128(2014)
Cited for: VARIANTS XPV VAL-37 DEL; PRO-93; ASP-266; ARG-295 AND ALA-692;
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.