Variant position: 169 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 IHQLEQQVEKLRKKLKTAQQ RCRRQERQLEKLKEVVHFQKE
Mouse ILQLEQQVEKLRKKLKTAQQ RCRRQERQLEKLKEVVHFQRE
Rat ILHLEQQVEKLRKKLKTAQQ RCRRQERQLEKLKEVVHFQRE
Bovine IHQLEQQVEKLRKKLKTAQQ RCRRQERQLEKLKEVVHFQKE
Xenopus tropicalis IQQLEEQVDKLRKKLKIANQ KCRRQERSLEKLEREVSEYRE
Zebrafish VQRLQEQMEKLRRRMKTLQQ KCRRQERQLERL-------RA
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
139 – 185 Involved in homodimer formation
139 – 190
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;
In-depth Characterization of the Homodimerization Domain of the Transcription Factor THAP1 and Dystonia-Causing Mutations Therein.
Richter A.; Hollstein R.; Hebert E.; Vulinovic F.; Eckhold J.; Osmanovic A.; Depping R.; Kaiser F.J.; Lohmann K.;
J. Mol. Neurosci. 62:11-16(2017)
Cited for: SUBUNIT; REGION; VARIANTS DYT6 VAL-143; THR-149; PRO-150; THR-166; GLN-169; ARG-170; GLY-174; PRO-177 AND SER-180; CHARACTERIZATION OF VARIANTS DYT6 THR-149; PRO-150; THR-166; GLN-169; ARG-170; GLY-174; PRO-177 AND SER-180;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.