The UMD-THAP1 mutations database
Record ID: 9

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.460delC	p.Gln154SerfsX27	Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CAG	Gln	del1a	Fs.	Stop at 180	Fr.

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
NLS	THAP1 dimerization

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 F0013 I0001	D022	1	Proband	Unknown	Familial	U.S.A.

Phenotypic group	Disease
Reduced nuclear import	Unknown

Associated pictures

Genealogic tree

Clinical data

Symptom

No clinical data available

Comments

Family previously reported in Kramer et al. Am J Hum Genet 55:468-75 (1994). Mutation abolishs binding of THAP1 to TOR1A (Gavarini et al Annals of Neurology, 2010). Reduced nuclear import demonstrated in ref 33.

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.