The UMD-THAP1 mutations database
Record ID: 56

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.436_443del	p.Arg146AspfsX9	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CGG	Arg	del8a	Fs.	Stop at 154	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
NLS

Mutation impact

At the mRNA level	On restriction map
Deletion flanked by direct repeats	New restriction site(s): none Lost restriction site(s): none

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
FRA02PAR F0370 I0028	ITD_370_28		Proband	Female	No family history	FRANCE

Phenotypic group	Disease
NA	Generalized dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		25
Age of onset	face	12
Arm		25
Cranial		25
Leg		25
Speech		25

Reference

Reference ID	PubMed ID	Reference
15	21110056	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. Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype. Neurogenetics. 2011 Feb;12(1):87-9.