The UMD-THAP1 mutations database
Record ID: 4

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.61T>A	p.Ser21Thr	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
TCT	Ser	ACT	Thr	T->A	Tv

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
L1-THAP dom.		Yes, coding strand	No

Mutation impact

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

Conservation (0-1)	SIFT (0-1)	UMD-predictor (0-100)
0.71	0.00 (pathogenous)	47 (Polymorphism)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
USA01NYO F0008 I0001	C0008	9	Proband	Unknown	Familial	U.S.A.

Phenotypic group	Disease
NA	Unknown

Associated pictures

Genealogic tree

Clinical data

Symptom

No clinical data available

Comments

Mutation abolishs binding of THAP1 to TOR1A, see Gavarini et al. Annals of Neurology, 2010.

Reference

Reference ID	PubMed ID	Reference
2	19345148	Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 2009 May;8(5):441-6.