Variant position: 244 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 273 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 KELRRAVRSSVW-KRETIVHQ HEYGPEE-NLEDDMYRKTCTMC
Mouse KELRRAIRSSVW-KRETTTHQ HKYGPEE-NLEDDMYRKTCT
Chicken KELRRAVRSSLW-KKTASIHE HEYGPEE-NVDEETYKKTCT
Xenopus laevis KELRRTVRSSLW-KKEASGHQ HEYGPEE-HVEEDSYKKTCI
Drosophila KQLRMEVRSSIYTKKTHEVHE HEFGPDTYDEEEDTYTHTCI
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 – 273 DNA repair protein complementing XP-A cells
Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A Xeroderma pigmentosum.
Satokata I.; Tanaka K.; Yuba S.; Okada Y.;
Mutat. Res. 273:203-212(1992)
Cited for: VARIANT XP-A ARG-244;
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