The UMD-THAP1 mutations database
Record ID: 41

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.176C>T	p.Thr59Ile	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
ACT	Thr	ATT	Ile	C->T	Ts

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
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	0.07 (non pathogenous)	65 (Probably pathogenous)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
NET01AMS F0003 I0001	Patient R	-	Proband	Male	No family history	NETHERLAND

Phenotypic group	Disease
NA	Generalized dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		28
Age of onset	arm	6
Arm		28
Deep Brain Stimulation	mild improvement	23
Deep Brain Stimulation	Mild improvement of cervical and limb dystonia. No improvement of dysarthria.	23
Face		28
Jaw		28
Larynx		28
Leg		28
Neck		28
Trunk		28

Reference

Reference ID	PubMed ID	Reference
10	20687191	Groen JL, Ritz K, Contarino MF, van de Warrenburg BP, Aramideh M, Foncke EM, van Hilten JJ, Schuurman PR, Speelman JD, Koelman JH, de Bie RM, Baas F, Tijssen MA. DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation. Mov Disord. 2010 Oct 30;25(14):2420-7.