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UniProtKB/Swiss-Prot Q9NVV9: Variant p.Ser21Thr

THAP domain-containing protein 1
Gene: THAP1
Variant information

Variant position:  21
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Serine (S) to Threonine (T) at position 21 (S21T, p.Ser21Thr).
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:  Change from small size and polar (S) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In DYT6.
Any additional useful information about the variant.



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                         MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKEWEAAVR

Mouse                         MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKQWEAAVK

Rat                           MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKQWEAAVR

Bovine                        MVQSCSAYGCKNRYDKDKPVSFHKFPLTRPSLCKKWEAAVR

Xenopus tropicalis            MVQSCSAYGCKNRYDKDKPISFHKFPLKRPLLCRKWEAAVR

Zebrafish                     MVQSCSAYGCKNRYQKDRNISFHKFPLARPEVCVQWVSAMS

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.

TypePositionsDescription
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.