| 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  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 166 |
SER01BEL F0003 I0001 | Female |
Heterozygous |
SERBIA |
NA |
23 |
|
| p.Leu72ThrfsX14 |
c.213dup |
2 |
72 |
L4-THAP dom. |
|
Small rearrangement |
Fr. |
Stop at 85 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 156 |
CHI02CHE F0001 I0001 | Male |
Heterozygous |
CHINA |
NA |
21 |
|
| p.Arg172LysfsX7 |
c.514dup |
3 |
172 |
Coiled-Coil dom. |
|
Small rearrangement |
Fr. |
Stop at 178 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 14 |
FRA01MON F0001 I0001 | Male |
Heterozygous |
FRANCE |
NA |
4 |
|