Mutations in TMD and DS-AMKL
Nature of mutations . | No. of patients . | Consequence . |
|---|---|---|
| AMKL | ||
| Insertions | 16 | Premature stop |
| Deletions | 14 | Premature stop |
| Insertion + deletion | 2 | Premature stop |
| Missense | 3 | No translation from Met1 |
| Nonsense | 4 | Premature stop |
| Splice | 4 | Alternate splicing |
| Polymorphism/normal | 2 | |
| Indeterminate | 6 | |
| TMD | ||
| Insertions | 23 | Premature stop |
| Deletions | 24 | Premature stop |
| Insertion + deletion | 1 | Premature stop |
| Missense | 1 | No translation from Met1 |
| Nonsense | 12 | Premature stop |
| Splice | 5 | Alternate splicing |
| Polymorphism/normal | 2 |
Nature of mutations . | No. of patients . | Consequence . |
|---|---|---|
| AMKL | ||
| Insertions | 16 | Premature stop |
| Deletions | 14 | Premature stop |
| Insertion + deletion | 2 | Premature stop |
| Missense | 3 | No translation from Met1 |
| Nonsense | 4 | Premature stop |
| Splice | 4 | Alternate splicing |
| Polymorphism/normal | 2 | |
| Indeterminate | 6 | |
| TMD | ||
| Insertions | 23 | Premature stop |
| Deletions | 24 | Premature stop |
| Insertion + deletion | 1 | Premature stop |
| Missense | 1 | No translation from Met1 |
| Nonsense | 12 | Premature stop |
| Splice | 5 | Alternate splicing |
| Polymorphism/normal | 2 |