The UMD-THAP1 mutations database
Record ID: 57

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.207_209delCAA	p.Asn69_Asn69del	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
AAC	Asn	del3c	InF	In frame del	InF

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
L4-THAP dom.

Mutation impact

At the mRNA level	On restriction map
Deletion of a repeated sequence	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 F0442 I0020	ITD_442_20		Proband	Male	No family history	FRANCE

Phenotypic group	Disease
NA	Generalized dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		30
Age of onset	neck	11
Arm		30
Cranial		30
Deep Brain Stimulation		30
Leg		30
Neck		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.