The UMD-THAP1 mutations database
Record ID: 8

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.266A>G	p.Lys89Arg	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
AAG	Lys	AGG	Arg	A->G	Ts

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
		Yes, non coding strand	No

Mutation impact

At the mRNA level	On restriction map
Not tested on cDNA (needed)	New restriction site(s): none Lost restriction site(s): none

Conservation (0-1)	SIFT (0-1)	UMD-predictor (0-100)
0.79	0.34 (non pathogenous)	35 (Polymorphism)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
USA01NYO F0012 I0001	C001	6	Proband	Unknown	Familial	U.S.A.

Phenotypic group	Disease
NA	Unknown

Associated pictures

Genealogic tree

Clinical data

Symptom

No clinical data available

Comments

Variation localized at the penultimate base: Alteration of the WT donor site, most probably affecting splicing. (Creation of an exonic ESS site. Alteration of an exonic ESE site).

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.