Variant position: 6 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 MVQSC SAYGCKNRYDKDKPVSFHKFP
Mouse MVQSC SAYGCKNRYDKDKPVSFHKFP
Rat MVQSC SAYGCKNRYDKDKPVSFHKFP
Bovine MVQSC SAYGCKNRYDKDKPVSFHKFP
Xenopus tropicalis MVQSC SAYGCKNRYDKDKPISFHKFP
Zebrafish MVQSC SAYGCKNRYQKDRNISFHKFP
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
4 – 4 S -> A. Does not affect DNA-binding.
5 – 5 C -> A. Abolishes DNA- and zinc-binding.
6 – 6 S -> A. Does not affect DNA-binding.
8 – 8 Y -> A. Does not affect DNA-binding.
10 – 10 C -> A. Abolishes DNA- and zinc-binding.
11 – 11 K -> A. Partially affects DNA-binding.
16 – 16 K -> A. Does not affect DNA-binding.
24 – 24 K -> A. Strongly affects DNA-binding.
26 – 26 P -> A. Abolishes DNA- and zinc-binding.
6 – 9
Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.
Clot F.; Grabli D.; Burbaud P.; Aya M.; Derkinderen P.; Defebvre L.; Damier P.; Krystkowiak P.; Pollak P.; Leguern E.; San C.; Camuzat A.; Roze E.; Vidailhet M.; Durr A.; Brice A.;
Cited for: VARIANTS DYT6 PRO-6; ASN-69 DEL AND ARG-72;
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.