Table 1.
TRPM1 mutations identified in this study.
| Nucleotide Change | Predicted Amino Acid Change | Exon | Families | ACMG 2015 mutation classification | Reference | Ethnic Origin | #of Families (Patients) |
|---|---|---|---|---|---|---|---|
| A. Definite Pathogenic Mutations | |||||||
| c.880A>T | p.Lys294* | 7 | MOL0084, MOL0086, MOL0224, MOL0239, MOL0398, MOL0417, MOL0471, MOL0609, MOL0688, MOL0743, MOL0968, MOL1075, MOL1085, MOL1188, MOL1311, MOL1420, SJ0004, SJ0008, SJ0016, SJ0164, SJ0181, SJ0185 | PVS1 | 1 | Palestinian | 22 (49) |
| chr15: 31355203- 31391647del (exon2–7del) | NA | 2–7 | MOL0079, MOL0132, MOL0362, MOL0611, MOL0614, MOL0720, MOL0903, MOL0976, MOL1265, MOL1521, MOL1631, RD206-1, RD356-1 | PVS1 | 1, 12 | Ashkenazi Jews | 13 (21) |
| c.2629C>T | p.R877* | MOL0325 | PVS1 | 1 | Palestinian | 1 (2) | |
| B. Possible Pathogenic Mutations | |||||||
| c.897C>T | p.G299G | 7 | MOL0388 | PP3 | 1 | ||
| c.2783G>A | p.R928Q | 21 | MOL0388 | PP3 | 15 | ||
| C. Monoallelic Families | |||||||
| c.2567G>A | p.W856* | 20 | MOL0015 | PVS1 | 12 | Iran Jew | 1(2) |