Table 2. List of novel mitochondrial variants detected in Malaysian CMP patients.
| Variant | Gene | Complex | AA change | CMP patients | |||
|---|---|---|---|---|---|---|---|
| Frequency, n (%) | Haplogroup | ||||||
| DCM (N = 87) | HCM (N = 58) | Total (N = 145) | |||||
| m.1108C>T | MT-RNR1 | – | – | 1 (1.1) | 0 (0.0) | 1 (0.7) | M12a2 |
| m.1731A>G | MT-RNR2 | – | – | 0 (0.0) | 1 (1.7) | 1 (0.7) | D4 |
| m.2465T>A | MT-RNR2 | – | – | 3 (3.4) | 1 (1.7) | 4 (2.8) | R8a1, M*, U1a1c1d |
| m.2473A>C | MT-RNR2 | – | – | 0 (0.0) | 1 (1.7) | 1 (0.7) | F1f |
| m.2475T>C | MT-RNR2 | – | – | 1 (1.1) | 0 (0.0) | 1 (0.7) | M71a1a |
| m.2479C>A | MT-RNR2 | – | – | 1 (1.1) | 0 (0.0) | 1 (0.7) | F1e3 |
| m.3511A>C | MT-ND1 | I | Thr → Pro | 1 (1.1) | 0 (0.0) | 1 (0.7) | B4c1b2a2 |
| m.3577A>C | MT-ND1 | I | Met → Leu | 1 (1.1) | 0 (0.0) | 1 (0.7) | M18 |
| m.4313T>A | MT-TI | – | – | 1 (1.1) | 0 (0.0) | 1 (0.7) | D5b4 |
| m.5551C>T | MT-TW | – | – | 1 (1.1) | 0 (0.0) | 1 (0.7) | F1a3b |
| m.7416T>C | MT-CO1 | IV | Phe → Leu | 1 (1.1) | 0 (0.0) | 1 (0.7) | B5a1a |
| m.8573G>C | MT-ATP6 | V | Gly → Ala | 3 (3.4) | 2 (3.4) | 5 (3.4) | M8a2, B5a1 |
| m.9318C>A | MT-CO3 | IV | His → Asn | 1 (1.1) | 0 (0.0) | 1 (0.7) | M3a1 |
| m.10144G>T | MT-ND3 | I | Gly → Val | 1 (1.1) | 0 (0.0) | 1 (0.7) | M53 |
| m.11916T>A | MT-ND4 | I | Phe → Tyr | 1 (1.1) | 0 (0.0) | 1 (0.7) | R30b2a |
| m.11918T>G | MT-ND4 | I | Ser → Ala | 1 (1.1) | 0 (0.0) | 1 (0.7) | F2b1 |
| m.12595A>G | MT-ND5 | I | Met → Val | 0 (0.0) | 1 (1.7) | 1 (0.7) | D4h3 |
| m.12663C>A | MT-ND5 | I | Asn → Lys | 0 (0.0) | 1 (1.7) | 1 (0.7) | B4a1a |
Note:
AA, amino acid; variant(s) in bold is highly potential to be pathogenic.