| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asn103IlefsX4 |
c.308delA |
5 |
103 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 106 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15155 |
TNMD_UK#59 | M |
|
UK |
|
0 |
|
| p.Asn170LeufsX37 |
c.508_511delAATG |
6 |
170 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 206 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 540 |
TNMD_CA_DM#69 | M |
|
CA |
|
0 |
|
| p.Asn542ThrfsX41 |
c.1625delA |
14 |
542 |
CRD-repeat #2 |
|
Small rearrangement |
Fr. |
Stop at 582 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2704 |
TNMD_FR#F754019011 | M |
|
FR |
|
0 |
|
| p.Asn594MetfsX13 |
c.1781delA |
15 |
594 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 606 |
2  |
|
|
| p.Asn755LysfsX11 |
c.2265_2284del |
18 |
755 |
CRD-repeat #4 |
|
Small rearrangement |
Fr. |
Stop at 765 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15117 |
TNMD_UK#40 | M |
|
UK |
|
0 |
|
| p.Asn831ThrfsX15 |
c.2492delA |
20 |
831 |
CRD-repeat #5 |
|
Small rearrangement |
Fr. |
Stop at 845 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 10236 |
TNMD_IR#63 | M |
|
IR |
|
0 |
|
| p.Asn1109MetfsX7 |
c.3326delA |
25 |
1109 |
CRD-repeat #7 |
|
Small rearrangement |
Fr. |
Stop at 1115 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16755 |
TNMD-US#1823 | M |
|
US |
|
0 |
|
| p.Asn1283LysfsX3 |
c.3849delT |
28 |
1283 |
CRD-repeat #9 |
|
Small rearrangement |
Fr. |
Stop at 1285 |
2  |
|
|
| p.Asn2019LysfsX20 |
c.6057delT |
42 |
2019 |
CRD-repeat #16 |
|
Small rearrangement |
Fr. |
Stop at 2038 |
2  |
|
|
| p.Asn2414ThrfsX7 |
c.7241delA |
50 |
2414 |
CRD-repeat #19 |
|
Small rearrangement |
Fr. |
Stop at 2420 |
1  |
|
|
| p.Asn2641LysfsX5 |
c.7923delT |
54 |
2641 |
CRD-repeat #21 |
|
Small rearrangement |
Fr. |
Stop at 2645 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16901 |
TNMD-US#2143 | M |
|
US |
|
0 |
|
| p.Asn3068LysfsX20 |
c.9204_9207delCAAA |
62 |
3068 |
CRD-hinge region #4 |
|
Small rearrangement |
Fr. |
Stop at 3087 |
4  |
|
|
| p.Lys3379PhefsX22 |
c.10134_10137delCAAA |
70 |
3378 |
Carboxy-terminal region |
|
Small rearrangement |
Fr. |
Stop at 3400 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15049 |
TNMD_UK#5 | M |
|
UK |
|
0 |
|