Table 1. Possible alternate splice site causing SNP.
| SNP number | Genomic location (bp) | Location of new site in MYOC genome | Location of new site in Mutated MYOC genome | Splice site type | Length of altered protein product | Known association with disease |
|---|---|---|---|---|---|---|
| SNP 67 (A>G) |
4453 (Intron) |
4449 |
4449 |
A |
215 |
No |
| SNP 12 (G>A) |
14072 (Intron) |
14075 |
14075 |
A |
258 |
No |
| SNP 88 (C/-) |
1293 (Intron) |
1299 |
1298 |
D |
214 |
No |
| SNP 22 (-/TTTT) |
12975 (Intron) |
12989 |
12993 |
A |
225 |
No |
| SNP 68 (T/-) |
4445 (Intron) |
4450 |
4449 |
A |
275 |
No |
| SNP 121 (T>C) | 16233 (Exon-3) | 16206 | 16206 | A | 337 | POAG |
The genomic location, the location of the splice site in the genome, the location of the splice site in the mutated genome, length of the translated product of the alternate spliced product are shown.