The UMD-THAP1 mutations database
Record ID: 45

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
GER02TUE F0004 I0001	case 4	-	Proband	Female	No family history	GERMANY

Phenotypic group	Disease
Reduced nuclear import	Focal dystonia

Clinical data

Symptom	Severity	Age
Age at last examination
Age of onset	neck	35
Neck		35

Comments

Reduced nuclear import demonstrated in ref 33.

Reference

Reference ID	PubMed ID	Reference
12	20669277	Shn AS, Glckle N, Doetzer AD, Deuschl G, Felbor U, Topka HR, Sch*ls L, Riess O, Bauer P, MŸller U, Grundmann K. Prevalence of THAP1 sequence variants in German patients with primary dystonia. Mov Disord. 2010 Sep 15;25(12):1982-6.