Variant position: 968 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1186 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 FLWGKPDLDKIREFCQRYFG WNRTKTDESLFPVLKQLDAQQ
Mouse FLWGKPDVDKISTFCQRYFG WNRMKTDESLYPVLKHLNAHQ
Xenopus laevis FSWGRPDLEQIREFCESRFG WYRLKTDEVLLPVLKQLNAQQ
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
1 – 1186 DNA excision repair protein ERCC-5
233 – 1186 Missing. In isoform 3.
978 – 978 F -> A. Reduced protein stability, two-fold decrease in 15-nt bubble DNA incision activity and smaller decrease in Y DNA incision activity; when associated with 955-A-A-956 and A-981.
981 – 981 L -> A. Reduced protein stability, two-fold decrease in 15-nt bubble DNA incision activity and smaller decrease in Y DNA incision activity; when associated with 955-A-A-956 and A-978.
Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.
Soltys D.T.; Rocha C.R.; Lerner L.K.; de Souza T.A.; Munford V.; Cabral F.; Nardo T.; Stefanini M.; Sarasin A.; Cabral-Neto J.B.; Menck C.F.;
Hum. Mutat. 34:481-489(2013)
Cited for: VARIANTS XP-G ASP-28 AND CYS-968; CHARACTERIZATION OF VARIANTS XP-G ASP-28 AND CYS-968;
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.