The UMD-THAP1 mutations database
Small insertions (5 records)

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Glu37GlyfsX10
c.109dup
2
37
AH1-THAP dom.
DNA binding -
Small rearrangement
Fr.
Stop at 46
2   
p.Glu37_Asn44dup
c.109_132dup
2
45
L3-THAP dom.
DNA binding -
Small rearrangement
Fr.
In frame ins
1   
p.Leu72ThrfsX14
c.213dup
2
72
L4-THAP dom.
Small rearrangement
Fr.
Stop at 85
1   
p.Arg172LysfsX7
c.514dup
3
172
Coiled-Coil dom.
Small rearrangement
Fr.
Stop at 178
1