The UMD-THAP1 mutations database
Record ID: 38

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.38G>A	p.Arg13His	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CGC	Arg	CAC	His	G->A	Ts

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
L1-THAP dom.		No	Yes

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	0.01 (pathogenous)	64 (Probable polymorphism)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
GER01LUB F0003 I0001	L-3969	-	Proband	Male	Familial	GERMANY

Phenotypic group	Disease
NA	Generalized dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		30
Age of onset	arm	6
Arm	moderate	6
Deep Brain Stimulation	moderate improvement	30
Dysarthria	moderate	30
Face	mild	30
Larynx	severe	30
Neck	moderate	30
Tongue	mild	30
Trunk	mild	30

Comments

Same patient reported in Lohmann et al. 2011. Measurement of the repression of the TOR1A promoter in a luceferase reporter gene assays suggests mild effect (Lower THAP1 activity of 80%)

Reference

Reference ID	PubMed ID	Reference
9	20687193	Zittel S, Moll CK, BrŸggemann N, Tadic V, Hamel W, Kasten M, Lohmann K, Lohnau T, Winkler S, Gerloff C, Sch*nweiler R, Hagenah J, Klein C, MŸnchau A, Schneider SA. Clinical neuroimaging and electrophysiological assessment of three DYT6 dystonia families. Mov Disord., 2010, 25(14):2405-12.