The UMD-THAP1 mutations database
Record ID: 12

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.388_389delTC	p.Val131PhefsX3	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
TCA	Ser	del2a	Fs.	Stop at 133	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG

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
GER01LUB F0001 I0001	7021	-	Proband	Male	Familial	GERMANY

Phenotypic group	Disease
Reduced nuclear import	Generalized dystonia

Clinical data

Symptom	Severity	Age
Age at last examination		35
Age of onset	speech	9
Arm	moderate	35
Deep Brain Stimulation	mild improvement	35
Dysarthria	severe	9
Face	mild	35
Larynx	severe	35
Leg	mild	35
Neck	moderate	35
Speech		9
Tongue	mild	35
Trunk	mild	35

Comments

Same patient reported in Zittel et al. Movement disorders, 25(14):2405-12 (2010). Reduced nuclear import demonstrated in ref 33.

Reference

Reference ID	PubMed ID	Reference
3	19345147	Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Brźggemann N, Zittel S, Fuchs T, Rakovi_ A, Schmidt A, Jabusch HC, Wilcox R, Kosti_ VS, Siebner H, Altenmźller E, Mźnchau A, Ozelius LJ, Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol. 2009 May;8(5):447-52.