Variant position: 192 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 RQERQLEKLKEVVHFQKEKD DVSERG--YVILPNDYFEIV---------------EVP
Mouse RQERQLEKLKEVVHFQREKD DASERG--YVILPNDYFEIV-
Rat RQERQLEKLKEVVHFQREKD DASERG--YVILPNDYFEIV-
Bovine RQERQLEKLKEVVHFQKEKD GASERG--YVILPNDYFEIV-
Xenopus tropicalis RQERSLEKLEREVSEYREAK GS---G--YVIFPGNYYEVLN
Zebrafish RQERQLERL-------RANR GPAPLGDRYVILPRELYEEL-
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
54 – 213 Missing. In isoform 2.
Prevalence of THAP1 sequence variants in German patients with primary dystonia.
Sohn A.S.; Glockle N.; Doetzer A.D.; Deuschl G.; Felbor U.; Topka H.R.; Schols L.; Riess O.; Bauer P.; Muller U.; Grundmann K.;
Mov. Disord. 25:1982-1986(2010)
Cited for: VARIANTS DYT6 ASN-57; ARG-83; CYS-137; VAL-143 AND ASN-192;
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