| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Cys569X |
c.1707C>A |
15 |
569 |
CRD-repeat #3 |
|
Small rearrangement |
Tv |
C->A |
1  |
|
|
| p.Cys650X |
c.1950T>A |
16 |
650 |
CRD-repeat #3 |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15103 |
TNMD_UK#33 | M |
|
UK |
|
0 |
|
| p.Cys816X |
c.2448C>A |
20 |
816 |
CRD-repeat #4 |
|
Small rearrangement |
Tv |
C->A |
2  |
|
|
| p.Cys2024X |
c.6072T>A |
42 |
2024 |
CRD-repeat #16 |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 10775 |
TNMD_IT#308 | M |
|
IT |
|
0 |
|
| p.Cys3174X |
c.9522C>A |
65 |
3174 |
Cystein-rich domain |
|
Small rearrangement |
Tv |
C->A |
1  |
|
|
| p.Cys3316X |
c.9948C>A |
68 |
3316 |
Carboxy-terminal region |
|
Small rearrangement |
Tv |
C->A |
1  |
|
|