| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Glu440Lys |
c.1318G>A |
11 |
440 |
CRD-repeat #1 |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7273 |
TNMD_CN_HOSP#388 | M |
|
CN |
|
0 |
|
| p.Glu753Lys |
c.2257G>A |
18 |
753 |
CRD-repeat #4 |
|
Small rearrangement |
Ts |
G->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 913 |
TNMD_CH#4 | M |
|
CH |
|
0 |
|
| p.Glu2890Lys |
c.8668G>A |
58-59 |
2890 |
CRD-repeat #23 |
|
Small rearrangement |
Ts |
G->A |
2  |
|
|