The UMD-THAP1 mutations database
Record ID: 40

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.408C>G	p.Asn136Lys	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
AAC	Asn	AAG	Lys	C->G	Tv

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
	HCF-1 binding	Yes, coding strand	No

Mutation impact

At the mRNA level	On restriction map
NA	New restriction site(s): Acc I, Sna I, Xca I Lost restriction site(s): none

Conservation (0-1)	SIFT (0-1)	UMD-predictor (0-100)
1	0.06 (non pathogenous)	76 (Pathogenous)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
NET01AMS F0002 I0001	II-10	Family J	Proband	Female	Familial	NETHERLAND

Phenotypic group	Disease
NA	Generalized dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		53
Age of onset	leg	9
Arm		53
Deep Brain Stimulation	Improvement of axial and limb dystonia. No improvement of speech.	48
Face		53
Jaw		53
Larynx		53
Leg		53
Neck		53
Trunk		53

Reference

Reference ID	PubMed ID	Reference
10	20687191	Groen JL, Ritz K, Contarino MF, van de Warrenburg BP, Aramideh M, Foncke EM, van Hilten JJ, Schuurman PR, Speelman JD, Koelman JH, de Bie RM, Baas F, Tijssen MA. DYT6 dystonia: Mutation screening, phenotype, and response to deep brain stimulation. Mov Disord. 2010 Oct 30;25(14):2420-7.