| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr151IlefsX6 |
c.451delT |
6 |
151 |
Actin binding domain |
|
Small rearrangement |
Fr. |
Stop at 156 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 14396 |
TNMD_RU#7 | M |
|
RU |
|
0 |
|
| p.Tyr286X |
c.857_858delAT |
9 |
286 |
CRD-hinge region #1 |
|
Small rearrangement |
Fr. |
Stop at 286 |
1  |
|
|
| p.Tyr1018X |
c.3053_3087del |
23 |
1018 |
CRD-repeat #6 |
|
Small rearrangement |
Fr. |
Stop at 1018 |
2  |
|
|
| p.Tyr2354IlefsX17 |
c.7060delT |
48 |
2354 |
CRD-repeat #19 |
|
Small rearrangement |
Fr. |
Stop at 2370 |
1  |
|
|
| p.Tyr2611LeufsX3 |
c.7832delA |
53 |
2611 |
CRD-repeat #21 |
|
Small rearrangement |
Fr. |
Stop at 2613 |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6480 |
TNMD_FR#F757123011 | M |
|
FR |
|
0 |
|