Mutations involved in SMA
| No | Gene | Type of mutation | Reference |
|---|---|---|---|
| 93% | SMNT | Homozygous deletion of exons 7 & 8 | 17 |
| 5.6% | SMNT | Homozygous deletion of exon 7 only | 17 |
| 1 | SMNT | Missense mutation on codon 245 (P245L) | 35 |
| 1 | SMNT | Missense mutation on codon 262 (S262I) | 34 |
| 1 | SMNT | Missense mutation on codon 272 (Y272C) | 17 |
| 1 | SMNT | Missense mutation on codon 274 (T274I) | 34 |
| 1 | SMNT | Missense mutation on codon 275 (G275S) | 32 |
| 1 | SMNT | Missense mutation on codon 279 (G279V) | 33 |
| 1 | SMNT | 4 bp microdeletion in 5′ splice donor site of intron 7 (921+4del4) | 17 |
| 1 | SMNT | 7 bp microdeletion in 3′ splice acceptor site of exon 6 (868−10del7) | 17 |
| 4 | SMNT | 4 bp microdeletion on exon 3 (430del4) | 36 |
| 1 | SMNT | Compound heterozygote | 37 |
| 1st copy - 5 bp microdeletion on exon 3 (472del5) | |||
| 2nd copy - deletion | |||
| 1 | SMNT | Compound heterozygote | 38 |
| 1st copy - 2 bp microdeletion on exon 2 (542del2) | |||
| 2nd copy - deletion or conversion | |||
| 1 | SMNT | 11 bp duplication on exon 6 (800ins11) | 39 |
| 45% of SMA I | NAIP | Homozygous deletion | 18 |
| and | |||
| 18% of SMA I,II,III | |||
| 73% of SMA I | p44T | Homozygous deletion | 20 |
| 15% of SMA I,II,III | p44T | Homozygous deletion | 19 |