The UMD-THAP1 mutations database
Record ID: 54

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.20_33del	p.Ala7GlufsX23	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
GCC	Ala	del14b	Fs.	Stop at 29	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
L1-THAP dom.

Mutation impact

At the mRNA level	On restriction map
No mechanism suspected	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 F0353 I0009	ITD_353_09		Proband	Male	No family history	FRANCE

Phenotypic group	Disease
NA	Segmental dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		30
Age of onset	arm	9
Arm		30
Cranial		30
Deep Brain Stimulation		30
Dysarthria		30
Neck		30
Speech		30

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.