Sequence information
Variant position: 21 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:
MVQSCSAYGCKNRYDKDKPV
S FHKFPLTRPSLCKEWEAAVR
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 MVQSCSAYGCKNRYDKDKPVS FHKFPLTRPSLCKEWEAAVR
Mouse MVQSCSAYGCKNRYDKDKPVS FHKFPLTRPSLCKQWEAAVK
Rat MVQSCSAYGCKNRYDKDKPVS FHKFPLTRPSLCKQWEAAVR
Bovine MVQSCSAYGCKNRYDKDKPVS FHKFPLTRPSLCKKWEAAVR
Xenopus tropicalis MVQSCSAYGCKNRYDKDKPIS FHKFPLKRPLLCRKWEAAVR
Zebrafish MVQSCSAYGCKNRYQKDRNIS FHKFPLARPEVCVQWVSAMS
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.
Mutagenesis
29 – 29
R -> A. Strongly affects DNA-binding.
Mutagenesis
30 – 30
P -> A. Does not affect DNA-binding.
Mutagenesis
31 – 31
S -> A. Does not affect DNA-binding.
Mutagenesis
32 – 32
L -> A. Does not affect DNA-binding.
Mutagenesis
33 – 33
C -> A. Does not affect DNA-binding.
Mutagenesis
34 – 34
K -> A. Does not affect DNA-binding.
Mutagenesis
35 – 35
E -> A. Does not affect DNA-binding.
Mutagenesis
36 – 36
W -> A. Abolishes DNA- and zinc-binding.
Mutagenesis
37 – 37
E -> A. Partially affects DNA-binding.
Mutagenesis
40 – 40
V -> A. Partially affects DNA-binding.
Mutagenesis
41 – 41
R -> A. Does not affect DNA-binding.
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;
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.