The UMD-THAP1 mutations database
Record ID: 61

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 I0002	L-4011	L-3969 's mother	Relative	Female	Familial	GERMANY

Phenotypic group	Disease
NA	Segmental dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		55
Age of onset	unknown
Arm		55
Neck		55

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.