The UMD-THAP1 mutations database
Small deletions (34 records)

Protein nomenclature	cDNA Nomenclature	Exon	Codon	Structure	HCD	Rearrangement	Mutation type	Mutational event	# records
p.Met1?	c.2delT	1	1	THAP dom.		Small rearrangement	Fr.	Stop at 72	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 2 USA01NYO F0006 I0001 Female Heterozygous U.S.A. NA 2
p.Ala7GlufsX23	c.20_33del	1	7	L1-THAP dom.		Small rearrangement	Fr.	Stop at 29	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 54 FRA02PAR F0353 I0009 Male Heterozygous FRANCE NA 15
p.Phe22ThrfsX50	c.63_66delTTTC	1	21	L1-THAP dom.		Small rearrangement	Fr.	Stop at 71	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 149 CHI01PEK F0003 F0002 Female Heterozygous CHINA NA 20 146 CHI01PEK F0003 F0001 Male Heterozygous CHINA NA 20
p.Phe58LeufsX15	c.174delT	2	58	THAP dom.	DNA binding -	Small rearrangement	Fr.	Stop at 72	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 26 UKD02LON F0006 I0001 Female Heterozygous GREECE NA 8
p.Glu66ValfsX19	c.197_198delAG	2	66	L4-THAP dom.		Small rearrangement	Fr.	Stop at 84	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 49 GER02TUE F0008 I0001 Female Heterozygous GERMANY NA 12
p.Asn69_Asn69del	c.207_209delCAA	2	69	L4-THAP dom.		Small rearrangement	InF	In frame del	4
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 39 NET01AMS F0001 I0001 Male Heterozygous NETHERLAND NA 10 57 FRA02PAR F0442 I0020 Male Heterozygous FRANCE NA 15 62 NET01AMS F0001 I0002 Male Heterozygous NETHERLAND NA 10 63 NET01AMS F0001 I0003 Male Heterozygous NETHERLAND NA 10
p.Thr79LysfsX41	c.236delC	2	79	H4-THAP dom.	AVPTIF motif	Small rearrangement	Fr.	Stop at 119	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 27 UKD02LON F0007 I0001 Female Heterozygous U.K. NA 8
p.Ile116MetfsX4	c.348delT	3	116			Small rearrangement	Fr.	Stop at 119	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 210 BRA01SAO F0010 I0001 Female Heterozygous BRAZIL NA 35
p.Pro126ArgfsX2	c.377_378delCT	3	126			Small rearrangement	Fr.	Stop at 127	2
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 15 FRA01MON F0002 I0001 Female Heterozygous FRANCE NA 4 68 FRA01MON F0002 I0002 Male Heterozygous FRANCE NA 4
p.Val131PhefsX3	c.388_389delTC	3	130			Small rearrangement	Fr.	Stop at 133	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 12 GER01LUB F0001 I0001 Male Heterozygous GERMANY Reduced nuclear import 3 45 GER02TUE F0004 I0001 Female Heterozygous GERMANY Reduced nuclear import 12 189 JAP01TOK F0001 I0010 Male Heterozygous JAPAN Reduced nuclear import 31
p.Ser130CysfsX4	c.389_390delCA	3	130			Small rearrangement	Fr.	Stop at 133	9
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 188 JAP01TOK F0001 I0009 Female Heterozygous JAPAN NA 31 187 JAP01TOK F0001 I0008 Male Heterozygous JAPAN NA 31 186 JAP01TOK F0001 I0007 Female Heterozygous JAPAN NA 31 185 JAP01TOK F0001 I0006 Female Heterozygous JAPAN NA 31 184 JAP01TOK F0001 I0005 Female Heterozygous JAPAN NA 31 183 JAP01TOK F0001 I0004 Female Heterozygous JAPAN NA 31 182 JAP01TOK F0001 I0003 Female Heterozygous JAPAN NA 31 181 JAP01TOK F0001 I0002 Female Heterozygous JAPAN NA 31 180 JAP01TOK F0001 I0001 Male Heterozygous JAPAN NA 31
p.Phe132del	c.394_396delTTC	3	132			Small rearrangement	InF	In frame del	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 173 USA01NYO F0015 I0001 Unknown Heterozygous U.S.A. NA 28
p.Thr138MetfsX15	c.413delC	3	138			Small rearrangement	Fr.	Stop at 152	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 221 JAP01TOK F0002 I0001 Female Heterozygous JAPAN NA 38
p.Arg146AspfsX9	c.436_443del	3	146	NLS		Small rearrangement	Fr.	Stop at 154	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 56 FRA02PAR F0370 I0028 Female Heterozygous FRANCE NA 15
p.Gln154SerfsX27	c.460delC	3	154	NLS	THAP1 dimerization	Small rearrangement	Fr.	Stop at 180	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 9 USA01NYO F0013 I0001 Unknown Heterozygous U.S.A. Reduced nuclear import 2
p.Lys158AsnfsX23	c.474delA	3	158	NLS	THAP1 dimerization	Small rearrangement	Fr.	Stop at 180	3
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 13 GER01LUB F0002 I0001 Male Heterozygous GERMANY Reduced nuclear import 3 71 GER01LUB F0002 I0002 Female Heterozygous GERMANY Reduced nuclear import 3 72 GER01LUB F0002 I0003 Male Heterozygous GERMANY Reduced nuclear import 3
p.Asp191ThrfsX9	c.570delA	3	190	Coiled-Coil dom.		Small rearrangement	Fr.	Stop at 199	1
UMD_id Sample ID Gender Mutation status Geographic origin Phenotypic group References 158 GER01LUB F0006 I0001 Female Heterozygous GERMANY NA 22