The UMD-THAP1 mutations database
Record ID: 13

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.474delA	p.Lys158AsnfsX23	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
AAA	Lys	del1c	Fs.	Stop at 180	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
NLS	THAP1 dimerization

Mutation impact

At the mRNA level	On restriction map
Deletion in a stretch of nucleotide	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 F0002 I0001	L-2257	-	Proband	Male	Familial	GERMANY

Phenotypic group	Disease
Reduced nuclear import	Generalized dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		68
Age of onset	hand	10
Arm	moderate	68
Larynx	moderate	68
Leg	mild	68
Neck	moderate	68

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, BrŸggemann N, Zittel S, Fuchs T, Rakovi_ A, Schmidt A, Jabusch HC, Wilcox R, Kosti_ VS, Siebner H, AltenmŸller E, MŸnchau 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.