The UMD-THAP1 mutations database
Record ID: 66

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.241T>C	p.Phe81Leu	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
TTT	Phe	CTT	Leu	T->C	Ts

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
H4-THAP dom.	AA interactions	Yes, coding strand	No

Mutation impact

At the mRNA level	On restriction map
NA	New restriction site(s): none Lost restriction site(s): Ssp I

Conservation (0-1)	SIFT (0-1)	UMD-predictor (0-100)
0.79	0.45 (non pathogenous)	59 (Probable polymorphism)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
USA01NYO F0001 I0003	411	family S	Relative	Male	Familial	GERMANY

Phenotypic group	Disease
NA	Segmental dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
		9
Age at last examination		47
Age of onset	cranial	9
Cranial		47
Face		47
Jaw

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.