Variant position: 799 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 916 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 ISSNDISSKLTLLTLHFPRL RILWCPSPHATAELFEELKQS
Mouse MSSSDVSSKLTLLTLHFPRL RLLWCPSPHATAELFEELKQN
Drosophila MANADIVQKLQLLTLHFPKL RLIWSPSPYATAQLFEELKLG
Slime mold LSPFSLPSKLVFLTKTFPRL RVIWSRSYYCTTKIYDQIKDG
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 – 916 DNA repair endonuclease XPF
658 – 813 Nuclease
373 – 916 Missing. In isoform 2.
Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease.
Sijbers A.M.; de Laat W.L.; Ariza R.R.; Biggerstaff M.; Wei Y.-F.; Moggs J.G.; Carter K.C.; Shell B.K.; Evans E.; de Jong M.C.; Rademakers S.; de Rooij J.; Jaspers N.G.J.; Hoeijmakers J.H.J.; Wood R.D.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 7-916 (ISOFORM 1); VARIANT ASP-703; VARIANT XP-F TRP-799;
Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.
Sijbers A.M.; van Voorst Vader P.C.; Snoek J.W.; Raams A.; Jaspers N.G.J.; Kleijer W.J.;
J. Invest. Dermatol. 110:832-836(1998)
Cited for: VARIANT XP-F TRP-799;
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