| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Asp46MetfsX6 |
c.136delG |
3 |
46 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 51 |
1  |
|
|
| p.Asp556ThrfsX27 |
c.1666delG |
14 |
556 |
CRD-repeat #2 |
|
Small rearrangement |
Fr. |
Stop at 582 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 864 |
TNMD_CA_DM#280 | M |
|
CA |
|
0 |
|
| p.Asp652GlufsX3 |
c.1956delT |
16 |
652 |
CRD-repeat #3 |
|
Small rearrangement |
Fr. |
Stop at 654 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 17475 |
TNMD-US#3881 | M |
|
US |
|
0 |
|
| p.Asp727IlefsX2 |
c.2179delG |
18 |
727 |
CRD-repeat #4 |
|
Small rearrangement |
Fr. |
Stop at 728 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 840 |
TNMD_CA_DM#259 | M |
|
CA |
|
0 |
|
| p.Asp1184ValfsX2 |
c.3551_3552delAT |
26 |
1184 |
CRD-repeat #8 |
|
Small rearrangement |
Fr. |
Stop at 1185 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3118 |
TNMD_FR#F752504011 | M |
|
FR |
|
0 |
|
| p.Asp1651IlefsX6 |
c.4951delG |
35 |
1651 |
CRD-repeat #12 |
|
Small rearrangement |
Fr. |
Stop at 1656 |
1  |
|
|
| p.Asp1789AsnfsX14 |
c.5365_5374del |
38 |
1789 |
CRD-repeat #14 |
|
Small rearrangement |
Fr. |
Stop at 1802 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16469 |
TNMD-US#1237 | M |
|
US |
|
0 |
|
| p.Asp1888IlefsX3 |
c.5662delG |
40 |
1888 |
CRD-repeat #15 |
|
Small rearrangement |
Fr. |
Stop at 1890 |
1  |
|
|
| p.Asp1916AlafsX12 |
c.5747_5757del |
41 |
1916 |
CRD-repeat #15 |
|
Small rearrangement |
Fr. |
Stop at 1927 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16487 |
TNMD-US#1264 | M |
|
US |
|
0 |
|
| p.Asp2505IlefsX5 |
c.7513delG |
51 |
2505 |
CRD-repeat #20 |
|
Small rearrangement |
Fr. |
Stop at 2509 |
2  |
|
|
| p.Glu2563SerfsX9 |
c.7686_7702del |
53 |
2562 |
CRD-repeat #20 |
|
Small rearrangement |
Fr. |
Stop at 2571 |
1  |
|
|
| p.Asp2969ThrfsX20 |
c.8905delG |
59 |
2969 |
CRD-repeat #24 |
|
Small rearrangement |
Fr. |
Stop at 2988 |
2  |
|
|
| p.Asp3044AlafsX48 |
c.9131_9147del |
61 |
3044 |
CRD-hinge region #4 |
|
Small rearrangement |
Fr. |
Stop at 3091 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 14133 |
TNMD_PT#17 | M |
|
PT |
|
0 |
|