| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Trp163AlafsX8 |
c.485_486dup |
6 |
163 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 170 |
1  |
|
|
| p.Trp431MetfsX8 |
c.1290dup |
11 |
431 |
CRD-repeat #1 |
|
Small rearrangement |
|
Stop at 438 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 594 |
TNMD_CA_DM#99 | M |
|
CA |
|
0 |
|
| p.Trp551LeufsX16 |
c.1651dup |
14 |
551 |
CRD-repeat #2 |
|
Small rearrangement |
Fr. |
Stop at 566 |
1  |
|
|
| p.Trp2485LeufsX6 |
c.7453dup |
51 |
2485 |
CRD-repeat #20 |
|
Small rearrangement |
|
Stop at 2490 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6264 |
TNMD_FR#F755442011 | M |
|
FR |
|
0 |
|
| p.Trp3061GlyfsX29 |
c.9181insGG |
62 |
3061 |
CRD-hinge region #4 |
|
Small rearrangement |
Fr. |
Stop at 3089 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16585 |
TNMD-US#1475 | M |
|
US |
|
0 |
|
| p.Trp3294CysfsX37 |
c.9880_9881dup |
68 |
3294 |
Cystein-rich domain |
|
Small rearrangement |
|
Stop at 3330 |
2  |
|
|