Variant position: 589 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 VLHEVEPRYVVLYDAELTFV RQLEIYRASR---PGKPLRVYFLI
Mouse VLHEVEPRYVVLYDAELTFV RQLEIYRASR---PGKPLRVY
Drosophila MLEQLQPHYVVMYNMNVTAI RQLEVFEARRRLPPADRMKVY
Slime mold ILDEIRPTFIIVYDPDISIT RQIEVYKAEN---PGTPVRLY
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
373 – 916 Missing. In isoform 2.
Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Kashiyama K.; Nakazawa Y.; Pilz D.T.; Guo C.; Shimada M.; Sasaki K.; Fawcett H.; Wing J.F.; Lewin S.O.; Carr L.; Li T.S.; Yoshiura K.; Utani A.; Hirano A.; Yamashita S.; Greenblatt D.; Nardo T.; Stefanini M.; McGibbon D.; Sarkany R.; Fassihi H.; Takahashi Y.; Nagayama Y.; Mitsutake N.; Lehmann A.R.; Ogi T.;
Am. J. Hum. Genet. 92:807-819(2013)
Cited for: VARIANTS XPF/CS ARG-236 AND TRP-589;
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