Variant position: 136 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 213 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 IGLLMPPLQTP----VNLSVFCDH NYTVEDTMHQRKRIHQLEQQV
Mouse IGLLMPPLQTP----DNLSVFCDH NYTVEDTMHQRKRILQL
Rat VGLLMPPLQTP----DNLSVFCDH NYTVEDTMHQRKRILHL
Bovine IGLLMPPLQTP----DNLSVFCDH NYTVEDTMHQRKRIHQL
Xenopus tropicalis IGLLLPPLYTP----SHIAVICDH NYTVEDTVHQRRRIQQL
Zebrafish GAVSCPEQCVPPGGQEAGAVSCDH NYTLEDCVQQKRRVQRL
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 – 213 THAP domain-containing protein 1
134 – 137 HCFC1-binding motif (HBM)
54 – 213 Missing. In isoform 2.
THAP1 mutations (DYT6) are an additional cause of early-onset dystonia.
Houlden H.; Schneider S.A.; Paudel R.; Melchers A.; Schwingenschuh P.; Edwards M.; Hardy J.; Bhatia K.P.;
Cited for: VARIANTS DYT6 PHE-6; CYS-8; ARG-26; SER-136 AND GLN-169;
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