Sequence information
Variant position: 8 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:
MVQSCSA
Y GCKNRYDKDKPVSFHKFPLT
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 MVQSCSAY GCKNRYDKDKPVSFHKFPLT
Mouse MVQSCSAY GCKNRYDKDKPVSFHKFPLT
Rat MVQSCSAY GCKNRYDKDKPVSFHKFPLT
Bovine MVQSCSAY GCKNRYDKDKPVSFHKFPLT
Xenopus tropicalis MVQSCSAY GCKNRYDKDKPISFHKFPLK
Zebrafish MVQSCSAY GCKNRYQKDRNISFHKFPLA
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
Mutagenesis
4 – 4
S -> A. Does not affect DNA-binding.
Mutagenesis
5 – 5
C -> A. Abolishes DNA- and zinc-binding.
Mutagenesis
6 – 6
S -> A. Does not affect DNA-binding.
Mutagenesis
8 – 8
Y -> A. Does not affect DNA-binding.
Mutagenesis
10 – 10
C -> A. Abolishes DNA- and zinc-binding.
Mutagenesis
11 – 11
K -> A. Partially affects DNA-binding.
Mutagenesis
16 – 16
K -> A. Does not affect DNA-binding.
Mutagenesis
24 – 24
K -> A. Strongly affects DNA-binding.
Mutagenesis
26 – 26
P -> A. Abolishes DNA- and zinc-binding.
Mutagenesis
27 – 27
L -> A. Partially affects DNA-binding.
Mutagenesis
28 – 28
T -> A. Does not affect DNA-binding.
Beta strand
6 – 9
Literature citations
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.;
Neurology 74:846-850(2010)
Cited for: VARIANTS DYT6 PHE-6; CYS-8; ARG-26; SER-136 AND GLN-169;
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.