The UMD-THAP1 mutations database
Record ID: 101

Mutation description

Variation name (cDNA level)	Variation name (protein level)	Variation status	Variation class
c.95T>A	p.Leu32His	Homozygous	Mutation

wt codon	wt aa	mutant codon	mutant aa	mutational event	mutation type
CTT	Leu	CAT	His	T->A	Tv

Structure	Key Residue (HCD)	Pyrimidin doublet	CpG
L2-THAP dom.	AA interactions	Yes, coding strand	No

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	0.01 (pathogenous)	100 (Pathogenous)

Patient and sample data

Sample ID	Patient ID	Family ID	Patient status	Gender	Transmission	Geographic origin
GER01LUB F0004 I0001	L-3707		Proband	Female	Familial	IRAN

Phenotypic group	Disease
NA	Generalized dystonia

Associated pictures

Genealogic tree

Clinical data

Symptom	Severity	Age
Age at last examination		13
Age of onset	leg	6
Arm	moderate	8
Cranial		13
Jaw	severe	9
Leg	severe	6
Neck	severe	9
Tongue		9
Trunk	moderate	8

Reference

Reference ID	PubMed ID	Reference
17	21425335	Schneider SA, Ramirez A, Shafiee K, Kaiser FJ, Erogullari A, BrŸggemann N, Winkler S, Bahman I, Osmanovic A, Shafa MA, Bhatia KP, Najmabadi H, Klein C, Lohmann K. Homozygous THAP1 mutations as cause of early-onset generalized dystonia. Mov Disord. 2011 Apr;26(5):858-61.