Table 1 Summary of myosin VIIA mutations detected in this study.
| Nucleotide change | Codon change | Exon | Domain | No. of families | Origin |
|---|---|---|---|---|---|
| Missense | |||||
| c.77C>A* | p.A26E | 3 | Motor | 1 | Italy |
| c.395C>T | p.P132L | 5 | Motor | 1 | Spain |
| c.721C>G | p.R241G | 7 | Motor | 3 | Italy |
| c.1097T>C | p.L366P | 11 | Motor | 1 | Italy |
| c.3134T>C/ c.5507T>C | p.I1045T/p.L1836P | 25/40 | Tail | 1 | Italy |
| c.3652G>A | p.G1218R | 29 | Tail | 1 | Italy |
| c.3719G>A† | p.R1240Q | 29 | Tail | 1 | Italy |
| c.4475C>T | p.A1492V | 34 | Tail | 1 | Spain |
| c.6610G>C | p.A2204P | 49 | Tail | 1 | Spain |
| Nonsense | |||||
| c.1884C>A‡ | p.C628X | 16 | Motor | 1 | Spain |
| c.5581C>T§ | p.R1861X | 40 | Tail | 1 | Spain |
| Insertion/deletion | |||||
| c.655_660del | p.I219_H220del | 7 | Motor | 1 | Morocco |
| c.986dupG | p.N330QfsX5 | 9 | Motor | 1 | Italy |
| c.3764delA | p.K1255RfsX8 | 30 | Tail | 1 | Spain |
| c.4297delC | p.Q1433SfsX116 | 32 | Tail | 1 | Spain |
| c.5835_5838delCTTT | p.F1946SfsX23 | 42 | Tail | 1 | Italy |
| c.6025delG* | p.A2009PfsX32 | 44 | Tail | 1 | Italy |
| Putative splice site mutation | |||||
| c.2283‐1G>T¶ | — | 20 | Neck | 1 | Morocco |