Summary of ALK-1 mutations in 10 HHT2 families
| Family | Mutation type | Exon | Mutation | Effect on protein | References |
|---|---|---|---|---|---|
| 20 | Missense | 8 | c.1232G>A | Arg411Gln | 38, 41, 45 |
| 38 | Deletion | 3 | c.86delG | Arg28fs | 45 |
| 41 | Missense | 7 | c.998G>T | Ser333Ile | 45, 47, 58 |
| 64 | Missense | 8 | c.1221G>T | Glu407Asp | 44 |
| 75 | Missense | 8 | c.1123T>C | Tyr375His | 45 |
| 106 | Insertion | 8 | c.1113insG | Gly371fs | 45 |
| 110 | Missense | 3 | c.150G>T | Trp50Cys | 44, 58, 59 |
| 129 | Missense | 8 | c.1121G>A | Arg374Gln | 45 |
| 170 | Missense | 8 | c.1231C>T | Arg411Trp | 45, 46 |
| 181 | Deletion | 9 | c.1299delC | Pro433fs | 45 |