The UMD-THAP1 mutations database
Record ID: 55

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.215T>G	p.Leu72Arg	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CTG	Leu	CGG	Arg	T->G	Tv

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
L4-THAP dom.		Yes, coding strand	No

Mutation impact

At the mRNA level	On restriction map
NA	New restriction site(s): none Lost restriction site(s): none

Conservation (0-1)	SIFT (0-1)	UMD-predictor (0-100)
0.79	0.13 (non pathogenous)	76 (Pathogenous)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
FRA02PAR F0316 I0006			Proband	Female	Familial	FRANCE

Phenotypic group	Disease
NA	Generalized dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		71
Age of onset	neck	20
Arm		71
Cranial		71
Dysarthria		71
Leg		71
Neck		71
Speech		71

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.