Table 3.
Reported mutations in MYO1A
| Origin | Pathogenic variant | Protein effect | Exon | Domain | Type of mutation | Inheritance pattern | Zygosity |
|---|---|---|---|---|---|---|---|
| Italian | 277C/T | R93X | 3 | Myosin motor | Nonsence | AD | Heterozygous |
| Italian | 349-350A | 349-350insCTT | 4 | Myosin motor | Insertion | AD | Heterozygous |
| Italian | 916G/A | V306M | 10 | Myosin motor | Missence | AD | Heterozygous |
| Italian | 1155G/T | E385D | 12 | Myosin motor | Missence | AD | Heterozygous |
| Italian | 1985G/A | G662E | 18 | Myosin motor | Missence | AD | Heterozygous |
| Italian | 2021G/A | G674D | 18 | Myosin motor | Missence | AD | Heterozygous |
| Italian | 2390C/T | S797F | 22 | - | Missence | AD | Heterozygous |
| Italian | 2728T/C | S910P | 25 | TH1 | Missence | AD | Heterozygous |
| Pakistani | c.784C>T | p.Arg262∗ | 10 | Myosin motor | nonsense | AD | Heterozygous |
| German | c.2220T>G | p.Tyr740∗ | 21 | IQ 2 | nonsense | AD | Heterozygous |
| Iranian | c.2804T>C | I935T | 26 | TH1 | Missence | AR/ compound heterozygous | Heterozygous |
TH1; Class I myosin tail homology, AD; Autosomal dominant, and AR; Autosomal recessive.