The UMD-THAP1 mutations database
Record ID: 89

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.135_139delinsGGGTTTA		Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
TTT	Phe	indels	indels	indels	indels

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
L3-THAP dom.	DNA binding -

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	-	65 (Probably pathogenous)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
USA01NYO F0003 I0015	522	Family M	Relative	Male	Familial	AMISH-MENNONITE

Phenotypic group	Disease
Reduced nuclear import	Segmental dystonia

Associated pictures

Common ancestry

Family M

Clinical data

Symptom	Severity	Age
Age at last examination		23
Age of onset	cranial	10
Arm		23
Cranial		10
Face		23
Jaw		23
Larynx		23
Neck		23
Speech		23
Tongue		230

Comments

Reported previously in: • Almasy et al. Ann Neurol 42,670-673 (1997) • Saunders-Pullman et al. Am J Med Genet A 143A, 2098-2105 (2007). Reduced nuclear import demonstrated in ref 33.

Reference

Reference ID	PubMed ID	Reference
1	19182804	Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet. 2009 Mar;41(3):286-8.