| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Phe159HisfsX6 |
c.475_476delTT |
6 |
159 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 164 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2128 |
TNMD_FR#F757459011 | M |
|
FR |
|
0 |
|
| p.Phe571LeufsX12 |
c.1713delT |
15 |
571 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 582 |
3  |
|
|
| p.Phe756LeufsX6 |
c.2268_2299del |
18 |
756 |
CRD-repeat #4 |
|
Small rearrangement |
Fr. |
Stop at 761 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2850 |
TNMD_FR#F755821011 | M |
|
FR |
|
0 |
|
| p.Phe1684LeufsX37 |
c.5052delT |
36 |
1684 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1720 |
1  |
|
|
| p.Phe3332LeufsX45 |
c.9996delT |
69 |
3332 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3376 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16923 |
TNMD-US#2180 | M |
|
US |
|
0 |
|