The UMD-THAP1 mutations database
Record ID: 64

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.224A>T	p.Asn75Ile	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
AAT	Asn	ATT	Ile	A->T	Tv

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
L4-THAP dom.		Yes, non 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)
0.71	0.02 (pathogenous)	93 (Pathogenous)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
CHI01PEK F0001 I0002	E-2708's mother	Family E	Relative	Female	Familial	CHINA

Phenotypic group	Disease
NA	Focal dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		53
Age of onset	neck	24
Neck		24

Reference

Reference ID	PubMed ID	Reference
13	20825472	Cheng FB, Wan XH, Feng JC, Wang L, Yang YM, Cui LY. Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. Eur J Neurol. 2011 Mar;18(3):497-503.