The UMD-THAP1 mutations database
Record ID: 100

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.89C>G	p.Pro30Arg	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CCC	Pro	CGC	Arg	C->G	Tv

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
L2-THAP 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)
0.79	0.02 (pathogenous)	87 (Pathogenous)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
CZE01PRA F0001 I0001	-	-	Proband	Male	Familial	CZECH

Phenotypic group	Disease
NA	Generalized dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		14,5
Age of onset	hand	8
Arm		8
Deep Brain Stimulation	Excellent long-term effects	11
Leg		11
Neck		11
Trunk		11

Comments

Patient described in Jech et al. Mov Disord 2009; 24:2291-2292.

Reference

Reference ID	PubMed ID	Reference
16	21425341	Jech R, Bares M, Krepelov‡ A, Urgos’k D, Havr‡nkov‡ P, Ruzicka E. DYT 6-A novel THAP1 mutation with excellent effect on pallidal DBS. Mov Disord. 2011 Apr;26(5):924-5.