Variant position: 75 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 SEHFTPDCFKRECNNKLLKE NAVPTIFLCTEPHDKKEDLLE
Mouse SEHFTPDCFKRECNNKLLKE NAVPTIFLYIEPHEKKEDLES
Rat SEHFTPDCFKRECNNKLLKE NAVPTIFLYIEPHEKKEELEP
Bovine SEHFTPDCFKRECNNKLLKE DAVPTIFLCTEPHDKKEDLLE
Xenopus tropicalis SDHFTADCFKRECNNKLLKD NAVPTIFAHTEIKKKSGKAVK
Zebrafish SQHFTSDCFKQECNNRVLKD NAVPSLFTLQTQDPFSADVCF
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.
55 – 55 S -> A. Does not affect DNA-binding.
57 – 57 H -> A. Abolishes DNA- and zinc-binding.
58 – 58 F -> A. Abolishes DNA- and zinc-binding.
78 – 78 P -> A. Abolishes DNA- and zinc-binding.
Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China.
Cheng F.B.; Wan X.H.; Feng J.C.; Wang L.; Yang Y.M.; Cui L.Y.;
Eur. J. Neurol. 18:497-503(2011)
Cited for: VARIANTS DYT6 ILE-75 AND PRO-150;
THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression.
Cheng F.B.; Ozelius L.J.; Wan X.H.; Feng J.C.; Ma L.Y.; Yang Y.M.; Wang L.;
J. Neurol. 259:342-347(2012)
Cited for: VARIANTS DYT6 PHE-54; ILE-75; PRO-150 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.