The UMD-THAP1 mutations database
Record ID: 33

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.559C>A	p.Gln187Lys	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CAG	Gln	AAG	Lys	C->A	Tv

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

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)
0.86	1.00 (non pathogenous)	41 (Polymorphism)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
USA02MEN F0004 I0001	C-5002 (III-1)	C	Proband	Female	Familial	CHINA

Phenotypic group	Disease
NA	Focal dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		68
Age of onset	neck	53
Neck		53

Reference

Reference ID	PubMed ID	Reference
7	20083799	Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS. Novel THAP1 sequence variants in primary dystonia. Neurology. 2010 Jan 19;74(3):229-38.