Table 1. Functional significance of ACVRL1 mutations.
Previously known mutations are indicated in bold. *Patients with another described mutation in ENG.
| Nucleotide change | Amino acid change | Exon | Location of mutation | Conflicting mutation * | BMP9 response | Expression | Localization |
|---|---|---|---|---|---|---|---|
| c.121T>G | p.Cys41Gly (C41G) | 3 | Extracellular | - | No | Yes | Intracellular |
| c.122G>A | p.Cys41Tyr (C41Y) | 3 | Extracellular | - | No | Yes | Intracellular |
| c.136T>G | p.Cys46Gly (C46G) | 3 | Extracellular | - | No | Yes | Intracellular |
| c.140G>C | p.Arg47Pro (R47P) | 3 | Extracellular | - | No | Yes | Intracellular |
| c.196C>T | p.His66Tyr (H66Y) | 3 | Extracellular | - | No | Yes | Intracellular |
| c.230G>T | p.Cys77Phe (C77F) | 3 | Extracellular | - | No | Yes | Intracellular |
| c.333G>C | p.Glu111Asp (Q111D) | 4 | Extracellular | yes | Yes | Yes | Cell surface |
| c.631G>A | p.Gly211Ser (G211S) | 6 | Kinase domain | - | No | Yes | Intracellular |
| c.632G>A | p.Gly211Asp (G211D) | 6 | Kinase domain | - | No | Yes | Intracellular |
| c.733A>G | p.Ile245Val (I245V) | 6 | Kinase domain | - | Yes | Yes | Cell surface |
| c.916G>C | p.Ala306Pro (L306P) | 7 | Kinase domain | - | No | Yes | Intracellular |
| c.937C>G | p.Ala313Val (L313V) | 7 | Kinase domain | - | No | Yes | Intracellular |
| c.940C>T | p.His314Tyr (H314Y) | 7 | Kinase domain | - | No | Yes | Intracellular |
| c.1132C>T | p.Pro378Ser (P378S) | 8 | Kinase domain | - | No | Yes | Intracellular |
| c.1134C>T | p.Pro378Pro (P378P) | 8 | Kinase domain | Yes | Yes | Yes | Cell surface |
| c.1135G>A | p.Glu379Lys (E379K) | 8 | Kinase domain | - | No | Yes | Intracellular |
| c.1137G>T | p.Glu379Asp (E379D) | 8 | Kinase domain | - | No | Yes | Intracellular |
| c.1211T>G | p.Val404Gly (V404G) | 8 | Kinase domain | - | No | Yes | Cell surface |
| c.1231C>T | p.Arg411Trp (R411W) | 8 | Kinase domain | - | No | Yes | Cell surface |
| c.1249A>T | p.Ile417Phe (I417F) | 9 | Kinase domain | Yes | Yes | Yes | Cell surface |