Location
|
Mutation
|
Nucleotide change
|
Effect
|
Reference
|
Exon 1 | 1A→C | A→C at 1 | Incorrect initiation |
9
|
| 2T→C | T→C at 2 | Incorrect initiation |
9
|
| 3G→T | G→T at 3 | Incorrect initiation |
18, 22, 23
|
| 157delC1-151
| Deletion of C at 157 | Frameshift |
9
|
| 157insC1-151
| Insertion of C after 157 | Frameshift |
9
|
Exon 2 |
202GTCA→TTG
|
GTCA→TTG at 202–205
|
Frameshift
|
1-150
|
Exon 3 | L106X | T→G at 317 | Nonsense |
1
|
| L106S | T→C at 317 | Missense |
17
|
|
317delT
|
Deletion of T at 317
|
Frameshift
|
1-150
|
|
340del13
|
Deletion of 13bp between 340 and 352
|
Frameshift
|
1-150
|
| D122Y | G→T at 364 | Missense |
9 |
Intron 3 | IVS3+1G→A | G→A at 384 + 1 | Splice mutation |
24
|
| IVS3 − 2A→G | A→G at 385 − 2 | Splice mutation |
1
|
Exon 4 | G130V | G→T at 389 | Missense |
9, 16
|
| I154F | A→T at 460 | Missense |
1, 11
|
| L156P | T→C at 467 | Missense |
9 |
Intron 4 | IVS4+2T→G | T→G at 482 + 2 | Splice mutation |
19
|
| IVS4+3delA | Deletion of A at 482 + 3 | Splice mutation |
9
|
Exon 5a | R165C | C→T at 493 | Missense |
19
|
| W173G | T→G at 517 | Missense |
9 |
| L182F | C→T at 544 | Missense |
19 |
| L182H | T→A at 545 | Missense |
9
|
| H183R | A→G at 548 | Missense |
9
|