Variant position: 81 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 DCFKRECNNKLLKENAVPTI FLCTEPHDKKEDLLEPQEQLP
Mouse DCFKRECNNKLLKENAVPTI FLYIEPHEKKEDLESQEQLPS
Rat DCFKRECNNKLLKENAVPTI FLYIEPHEKKEELEPQEQLPS
Bovine DCFKRECNNKLLKEDAVPTI FLCTEPHDKKEDLLEPQEQPP
Xenopus tropicalis DCFKRECNNKLLKDNAVPTI FAHTEIKKKSGKAVKKEQLPA
Zebrafish DCFKQECNNRVLKDNAVPSL FTLQTQDPFSADVCFPLNVCA
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
1 – 81 THAP-type
54 – 213 Missing. In isoform 2.
78 – 78 P -> A. Abolishes DNA- and zinc-binding.
79 – 81
Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
Bressman S.B.; Raymond D.; Fuchs T.; Heiman G.A.; Ozelius L.J.; Saunders-Pullman R.;
Lancet Neurol. 8:441-446(2009)
Cited for: VARIANTS DYT6 LYS-12; THR-21; PRO-29; THR-39; LEU-81 AND ARG-89;
Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
Fuchs T.; Gavarini S.; Saunders-Pullman R.; Raymond D.; Ehrlich M.E.; Bressman S.B.; Ozelius L.J.;
Nat. Genet. 41:286-288(2009)
Cited for: VARIANT DYT6 LEU-81; DNA-BINDING;
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.