The UMD-THAP1 mutations database
Record ID: 67

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 I0004	302	family S	Relative	Female	Familial	GERMANY

Phenotypic group	Disease
NA	Generalized dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		79
Age of onset	arm	13
Arm		13
Cranial		79
Face		79
Jaw		79
Leg		79
Neck		79
Tongue		79
Trunk		79

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.