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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NVV9: Variant p.Arg29Gln

THAP domain-containing protein 1
Gene: THAP1
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Variant information Variant position: help 29 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Glutamine (Q) at position 29 (R29Q, p.Arg29Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In DYT6. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 29 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 213 The length of the canonical sequence.
Location on the sequence: help GCKNRYDKDKPVSFHKFPLT R PSLCKEWEAAVRRKNFKPTK 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVRRKNFKPTK

Mouse                         GCKNRYDKDKPVSFHKFPLTRPSLCKQWEAAVKRKNFKPTK

Rat                           GCKNRYDKDKPVSFHKFPLTRPSLCKQWEAAVRRKNFKPTK

Bovine                        GCKNRYDKDKPVSFHKFPLTRPSLCKKWEAAVRRKNFKPTK

Xenopus tropicalis            GCKNRYDKDKPISFHKFPLKRPLLCRKWEAAVRRADFKPTK

Zebrafish                     GCKNRYQKDRNISFHKFPLARPEVCVQWVSAMSRRNFKPTK
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 213 THAP domain-containing protein 1
Zinc finger 1 – 81 THAP-type
Alternative sequence 25 – 53 FPLTRPSLCKEWEAAVRRKNFKPTKYSSI -> KKIFWSHRNSFPHLLYRLLFPRLMLLLDY. In isoform 2.
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 – 30 TRP -> AAA. Strongly 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.
Mutagenesis 42 – 42 R -> A. Strongly affects DNA-binding.
Mutagenesis 43 – 43 K -> A. Does not affect DNA-binding.
Mutagenesis 44 – 44 N -> A. Does not affect DNA-binding.
Mutagenesis 45 – 45 F -> A. Strongly affects DNA-binding.
Mutagenesis 46 – 46 K -> A. Does not affect DNA-binding.
Mutagenesis 47 – 47 P -> A. Does not affect DNA-binding.
Mutagenesis 48 – 48 T -> A. Strongly affects DNA-binding.
Mutagenesis 49 – 49 K -> A. Does not affect DNA-binding.



Literature citations
Identification of a novel THAP1 mutation at R29 amino-acid residue in sporadic patients with early-onset dystonia.
Paisan-Ruiz C.; Ruiz-Martinez J.; Ruibal M.; Mok K.Y.; Indakoetxea B.; Gorostidi A.; Masso J.F.;
Mov. Disord. 24:2428-2429(2009)
Cited for: VARIANT DYT6 GLN-29; Genotype-phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases.
Ledoux M.S.; Xiao J.; Rudzinska M.; Bastian R.W.; Wszolek Z.K.; Van Gerpen J.A.; Puschmann A.; Momcilovic D.; Vemula S.R.; Zhao Y.;
Parkinsonism Relat. Disord. 18:414-425(2012)
Cited for: VARIANTS DYT6 ASP-7; GLU-16; CYS-21; GLN-29 AND VAL-80;
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.