The UMD-THAP1 mutations database
Record ID: 2

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.2delT	p.Met1?	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
ATG	Met	del1b	Fs.	Stop at 72	Fr.

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

Mutation impact

At the mRNA level	On restriction map
No mechanism suspected	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
USA01NYO F0006 I0001	D0001	3	Proband	Female	Familial	U.S.A.

Phenotypic group	Disease
NA	Multifocal dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		36
Age of onset	arm	25
Arm	bilateral	25
Dysarthria		36
Foot		25
Speech		25

Comments

Patient described in Panov et al. J Neurol Neurosurg Psychiatry. 2011 Sep 23.

Reference

Reference ID	PubMed ID	Reference
2	19345148	Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R. Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol. 2009 May;8(5):441-6.