Sequence information
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:
DCFKRECNNKLLKENAVPTI
F LCTEPHDKKEDLLEPQEQLP
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 DCFKRECNNKLLKENAVPTIF LCTEPHDKKEDLLEPQEQLP
Mouse DCFKRECNNKLLKENAVPTIF LYIEPHEKKEDLESQEQLPS
Rat DCFKRECNNKLLKENAVPTIF LYIEPHEKKEELEPQEQLPS
Bovine DCFKRECNNKLLKEDAVPTIF LCTEPHDKKEDLLEPQEQPP
Xenopus tropicalis DCFKRECNNKLLKDNAVPTIF AHTEIKKKSGKAVKKEQLPA
Zebrafish DCFKQECNNRVLKDNAVPSLF TLQTQDPFSADVCFPLNVCA
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
Chain
1 – 213
THAP domain-containing protein 1
Zinc finger
1 – 81
THAP-type
Alternative sequence
54 – 213
Missing. In isoform 2.
Mutagenesis
78 – 78
P -> A. Abolishes DNA- and zinc-binding.
Helix
79 – 81
Literature citations
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;
Disclaimer:
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.