The UMD-THAP1 mutations database
Record ID: 98

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.135_139delinsGGGTTTA		Heterozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
TTT	Phe	indels	indels	indels	indels

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
L3-THAP dom.	DNA binding -

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)
0.79	-	65 (Probably pathogenous)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
USA01NYO F0013 I0001	E001	2	Relative	Unknown	Familial	U.S.A.

Phenotypic group	Disease
Reduced nuclear import	Unknown

Associated pictures

Genealogic tree

Clinical data

Symptom

No clinical data available

Comments

Same haplotype than Amish families -> founder effect. Patient described in Panov et al. J Neurol Neurosurg Psychiatry. 2011 Sep 23. 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.