The UMD-THAP1 mutations database
Nonsense mutations (14 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Gln3X	c.7C>T	1	3	L1-THAP dom.		Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 20 UKD02LON F0001 I0001 Female Heterozygous U.K. NA 8
p.Arg29X	c.85C>T	2	29	L2-THAP dom.	DNA binding -	Small rearrangement	Ts	C->T	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 5 USA01NYO F0009 I0001 Unknown Heterozygous U.S.A. Reduced nuclear import 2 165 SER01BEL F0002 I0001 Male Heterozygous SERBIA Reduced nuclear import 23
p.Tyr50X	c.150T>G	2	50	L3-THAP dom.	DNA binding -	Small rearrangement	Tv	T->G	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 25 UKD02LON F0005 I0001 Female Heterozygous JEWISH NA 8
p.Gln97X	c.289C>T	3	97	Proline rich reg.		Small rearrangement	Ts	C->T	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 227 BRA02CUR F0003 I0001 Male Heterozygous BRAZIL NA 39 196 BRA01SAO F0002 I0001 Male Heterozygous BRAZIL NA 35 197 BRA01SAO F0002 I0002 Male Heterozygous BRAZIL NA 35 202 BRA01SAO F0005 I0001 Male Heterozygous BRAZIL NA 35 205 BRA01SAO F0007 I0001 Male Heterozygous BRAZIL NA 35 208 BRA01SAO F0008 I0001 Female Heterozygous BRAZIL NA 35 209 BRA01SAO F0009 I0001 Male Heterozygous BRAZIL NA 35 224 BRA02CUR F0001 I0001 Female Heterozygous BRAZIL NA 39 225 BRA02CUR F0001 I0002 Female Heterozygous BRAZIL NA 39
p.Gln124X	c.370C>T	3	124			Small rearrangement	Ts	C->T	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 44 GER02TUE F0003 I0001 Unknown Heterozygous GERMANY NA 12