The UMD-THAP1 mutations database
Record ID: 95

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 F0004 I0006	526	Family C	Relative	Female	Familial	AMISH-MENNONITE

Phenotypic group	Disease
Reduced nuclear import	Segmental dystonia

Associated pictures

Common ancestry

Family C

Clinical data

Symptom	Severity	Age
Age at last examination		19
Age of onset	neck	16
Cranial		19
Face		19
Larynx		19
Neck		16
Speech		19

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.