The UMD-THAP1 mutations database
Record ID: 39

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.207_209delCAA	p.Asn69_Asn69del	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
AAC	Asn	del3c	InF	In frame del	InF

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
L4-THAP dom.

Mutation impact

At the mRNA level	On restriction map
Deletion of a repeated sequence	New restriction site(s): none Lost restriction site(s): none

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
NET01AMS F0001 I0001	IV-9	Family L	Proband	Male	Familial	NETHERLAND

Phenotypic group	Disease
NA	Generalized dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		19
Age of onset	leg	7
Arm		19
Deep Brain Stimulation	Mild improvement of axial and limb dystonia.	9
Leg		19
Neck		19
Trunk		19

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.