Table 1.
Summary of ALPK3 mutations resulting in hypertrophic cardiomyopathy.
| Ref | Alt | Genotype | Variant Type | Amino Acid Change | Reference |
|---|---|---|---|---|---|
| G | A | Hom | Transition (acceptor site) | c.4736-1G > A | Almomani et al. [4] |
| C | T | Hom | Stopgain | c.3781C > T: p.R1261X | Almomani et al. [4] |
| G | A | Hom | Stopgain | c.5294G > A: p.W1765X | Almomani et al. [4] |
| G | A | Hom | Stopgain | c.3792G > A: p.W1264X | Phelan et al. [7] |
| C | - | Hom | Frameshift deletion | c.2018delC: p.Q675SfsX30 | Çağlayan et al. [8] |
| AA | - | Hom | Frameshift deletion | c.1531_1532delAA: p.K511RfsX12 | Jaouadi et al. [9] |
| G | A | Hom | Stopgain | c.639G > A: p.W213X | Al Senaidi et al. [10] |
| C | T | Comp het | Stopgian | c.1018C > T: p.Q340X | Herkert et al. [11] |
| G | A | Comp het | Nonsynonymous SNV | c.2434G > A: p.V812M | Herkert et al. [11] |
| C | - | Comp het | Frameshift deletion | c.4332delC: p.K1445RfsX29 | Herkert et al. [11] |
| G | - | Comp het | Framehsift deletion | c.541delG: p.A181PfsX130 | Herkert et al. [11] |
| C | T | Comp het | Nonsynonymous SNV | c.3439C > T: p.R1147W | Herkert et al. [11] |
| A | - | Comp het | Frameshift deletion | c.4997delA: p.N1666TfsX14 | Herkert et al. [11] |
| G | C | Comp het | Nonsynonymous SNV | c.4091G > C: p.G1364A | Herkert et al. [11] |
| G | C | Comp het | Transition (donor site) | c.5105 + 5G>C | Herkert et al. [11] |
| G | T | Comp het | Nonsynonymous SNV | c.597G > T: p.E199D | Herkert et al. [11] |
| G | T | Comp het | Nonsynonymous SNV | c.4888G > T: p.V1630F | Herkert et al. [11] |
| C | T | Hom | Transition (donor site) | c.3418C > T: p.Q1140X | Herkert et al. [11] |
| G | C | Hom | Nonsynonymous SNV | c.5155G > C: p.A1719P | Herkert et al. [11] |
| G | - | Comp het | Frameshift deletion | c.2033delG: p.R687fs | This study |
| G | - | Comp het | Frameshift deletion | c.3558delG: p.V1186fs | This study |
| G | A | Hom | Nonsynonymous SNV | c.G4897A: p.G1633R | This study |