Variant position: 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 782 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 FLVAIAEPVCRPTHVHEYKL TAYSLYAAVSVGLQTSDITEY
Mouse FLVAIAEPVCRPTHVHEYKL TAYSLYAAVSVGLQTSDITEY
Rat FLVAIAEPVCRPTHVHEYKL TAYSLYAAVSVGLQTSDITEY
Bovine FLVAIAEPVCRPTHVHEYKL TAYSLYAAVSVGLQTSDITDY
Chicken FLVAIAEPVCRPTHIHEYKL TAYSLYAAVSVGLQTSDITEY
Zebrafish FLVAISEPVCRPTHAHEYKL TAYSLYAAVSVGLQTSDIIEY
Drosophila FLIAISEPVCRPEHIHEYKL TAYSLYAAVSVGLQTHDIVEY
Slime mold FLVAIAEPVCRPQNIHEYQL TPYSLYAAVSVGLETNDIITV
Fission yeast FLVTISEPVSRPAFIHEYRI TAYSLYAAVSVGLKTEDIIAV
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 – 782 TFIIH basal transcription factor complex helicase XPB subunit
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Weeda G.; Eveno E.; Donker I.; Vermeulen W.; Chevallier-Lagente O.; Taieb A.; Stary A.; Hoeijmakers J.H.J.; Mezzina M.; Sarasin A.;
Am. J. Hum. Genet. 60:320-329(1997)
Cited for: VARIANT TTDP PRO-119;
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