The UMD-THAP1 mutations database
Record ID: 70

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.446T>C	p.Ile149Thr	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
ATT	Ile	ACT	Thr	T->C	Ts

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
NLS		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)
0.93	0.02 (pathogenous)	87 (Pathogenous)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
USA02MEN F0002 I0002	B-5382 (II-4)		Relative	Female	Familial	U.S.A.

Phenotypic group	Disease
NA	Focal dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		50
Age of onset	neck	49
Neck		49

Comments

Same patient also reported in Van Gerpen et al. Mov Disord 25,1306-1307 (2010)

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.