Table 3 of Bayat, Mol Vis 2008; 14:508-517. Table 3 of Bayat, Mol Vis 2008; 14:508-517.
Table 3. MYOC variations in Iranian JOAG patients.
| Gene location* | cDNA location*# | Exon | Intron | Effect on protein* | Number of patients (pedigree IDs) | Total number variant allele | Frequency of variant allele | Reference SNP number | |
| Heterozygous | Homozygous | ||||||||
| g.-83G>A | c.-83G>A | 1 | 7 (103, 113, 117,119, 122,131,134) | 1 (114) | 9 | 19.57% | rs2075648 | ||
| g.46C>A## | c.24C>A## | 1 | p.C8X## | 2 (123, 130) | 0 | 2 | 4.35% | ||
| g.249G>A | c.227G>A | 1 | R76K | 7 (103, 113, 117, 119, 122, 131, 134) | 1 (114) | 9 | 19.57% | rs2234926 | |
| g.14072G>A | IVS2+35G>A | 2 | 6 (100, 101, 103,111, 121, 130) | 8 (102, 104, 105, 107, 110, 113, 114, 117) | 22 | 47.83% | rs2032555 | ||
| g.16169G>A | c.975G>A | 3 | T325T | 1 (100) | 0 | 1 | 2.17% | ||
| g.16195T>C## | c.1001T>C## | 3 | L334P## | 1 (102) | 0 | 1 | 2.17% | ||
| g.16303C>T | c.1109C>T | 3 | P370L | 1 (104) | 0 | 1 | 2.17% | ||