Variant position: 690 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 CRGEAVYSRDCVHTLHSRDT WLKKARVVRLGEVPYKMVKGF
Mouse CRGEAVYSRDCVHTLHSRDT WLKQARVVRLGEVPYKMVKGF
Drosophila IRGEAVYSRDCVHLLHSREI WLKSARVVKLGEQPYKVVKA-
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
496 – 734 Interaction with RAD23B
607 – 766 Minimal sensor domain involved in damage recognition
607 – 741 DNA-binding; preference for heteroduplex DNA
141 – 940 Missing. In isoform 3.
In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation.
Yasuda G.; Nishi R.; Watanabe E.; Mori T.; Iwai S.; Orioli D.; Stefanini M.; Hanaoka F.; Sugasawa K.;
Mol. Cell. Biol. 27:6606-6614(2007)
Cited for: CHARACTERIZATION OF VARIANT XP-C SER-690;
An aromatic sensor with aversion to damaged strands confers versatility to DNA repair.
Maillard O.; Solyom S.; Naegeli H.;
PLoS Biol. 5:E79-E79(2007)
Cited for: CHARACTERIZATION OF VARIANT XP-C SER-690; MUTAGENESIS OF PHE-733;
Two-stage dynamic DNA quality check by xeroderma pigmentosum group C protein.
Camenisch U.; Trautlein D.; Clement F.C.; Fei J.; Leitenstorfer A.; Ferrando-May E.; Naegeli H.;
EMBO J. 28:2387-2399(2009)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT OF VARIANT XP-C SER-690; MUTAGENESIS OF TRP-531; TRP-542; PHE-733 AND GLU-755;
Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.
Chavanne F.; Broughton B.C.; Pietra D.; Nardo T.; Browitt A.; Lehmann A.R.; Stefanini M.;
Cancer Res. 60:1974-1982(2000)
Cited for: VARIANT XP-C SER-690;
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