| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Ser42ArgfsX2 |
c.125dup |
3 |
42 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 43 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15069 |
TNMD_UK#15 | M |
|
UK |
|
0 |
|
| p.Ser635X |
c.1900_1903dup |
16 |
635 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 635 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17137 |
TNMD-US#2571 | M |
|
US |
|
0 |
|
| p.Ser1104GlnfsX7 |
c.3309dup |
25 |
1104 |
CRD-repeat #7 |
|
Small rearrangement |
|
Stop at 1110 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3074 |
TNMD_FR#F759680011 | M |
|
FR |
|
0 |
|
| p.Ser1455PhefsX14 |
c.4363dup |
32 |
1455 |
CRD-repeat #10 |
|
Small rearrangement |
Fr. |
Stop at 1468 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9781 |
TNMD_GR#25 | M |
|
GR |
|
0 |
|
| p.Ser1768TyrfsX6 |
c.5299_5302dup |
37 |
1768 |
CRD-repeat #13 |
|
Small rearrangement |
Fr. |
Stop at 1773 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3344 |
TNMD_FR#F3432617641 | M |
|
FR |
|
0 |
|
| p.Ser3010PhefsX4 |
c.9028dup |
60 |
3010 |
CRD-repeat #24 |
|
Small rearrangement |
Fr. |
Stop at 3013 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 14150 |
TNMD_RO_DMD2#8 | M |
|
RO |
|
0 |
|
| p.Ser3225ValfsX6 |
c.9673insG |
67 |
3225 |
Cystein-rich domain |
|
Small rearrangement |
Fr. |
Stop at 3230 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6836 |
TNMD_FR#F3449524361 | M |
|
FR |
|
0 |
|
| p.Ser3343PhefsX9 |
c.10027dup |
69 |
3343 |
Carboxy-terminal region |
|
Small rearrangement |
|
Stop at 3351 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7483 |
TNMD_CN_HOSP#279 | M |
|
CN |
|
0 |
|