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UniProtKB/Swiss-Prot Q9NVV9: Variant p.Phe81Leu

THAP domain-containing protein 1
Gene: THAP1
Variant information

Variant position:  81
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Phenylalanine (F) to Leucine (L) at position 81 (F81L, p.Phe81Leu).
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 large size and aromatic (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Involvement in disease:  Dystonia 6, torsion (DYT6) [MIM:602629]: A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions. {ECO:0000269|PubMed:19182804, ECO:0000269|PubMed:19345147, ECO:0000269|PubMed:19908320, ECO:0000269|PubMed:19908325, ECO:0000269|PubMed:20083799, ECO:0000269|PubMed:20211909, ECO:0000269|PubMed:20629133, ECO:0000269|PubMed:20669277, ECO:0000269|PubMed:20687191, ECO:0000269|PubMed:20825472, ECO:0000269|PubMed:21110056, ECO:0000269|PubMed:21425335, ECO:0000269|PubMed:21425341, ECO:0000269|PubMed:21800139, ECO:0000269|PubMed:21839475, ECO:0000269|PubMed:21847143, ECO:0000269|PubMed:22377579, ECO:0000269|PubMed:25385508, ECO:0000269|PubMed:28299530, ECO:0000269|Ref.3}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In DYT6; affects DNA-binding.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  81
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:   DCFKRECNNKLLKENAVPTI  F LCTEPHDKKEDLLEPQEQLP
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                         DCFKRECNNKLLKENAVPTIFLCTEPHDKKEDLLEPQEQLP

Mouse                         DCFKRECNNKLLKENAVPTIFLYIEPHEKKEDLESQEQLPS

Rat                           DCFKRECNNKLLKENAVPTIFLYIEPHEKKEELEPQEQLPS

Bovine                        DCFKRECNNKLLKEDAVPTIFLCTEPHDKKEDLLEPQEQPP

Xenopus tropicalis            DCFKRECNNKLLKDNAVPTIFAHTEIKKKSGKAVKKEQLPA

Zebrafish                     DCFKQECNNRVLKDNAVPSLFTLQTQDPFSADVCFPLNVCA

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
Alternative sequence 54 – 213 Missing. In isoform 2.
Mutagenesis 78 – 78 P -> A. Abolishes DNA- and zinc-binding.
Helix 79 – 81


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;

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.
Fuchs T.; Gavarini S.; Saunders-Pullman R.; Raymond D.; Ehrlich M.E.; Bressman S.B.; Ozelius L.J.;
Nat. Genet. 41:286-288(2009)
Cited for: VARIANT DYT6 LEU-81; DNA-BINDING;

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.