Table 2

Range of ALK-1 mutant constructs transiently transfected into HeLa and bovine aortic endothelial cells, with subcellular localisation

ALK-1 mutationLocation of mutationMutant ALK-1 constructs producedReported phenotype in present series (*) or previous studiesLocalisation
Myc taggedGFP taggedPhenotypeReports
†Mutation G48E;A49P results from nucleotide changes G143A substitution, deletion of G145, and insertion of T147, converting adjacent amino acids glycine 48 to glutamic acid and alanine 49 to proline.
G48E;A49P†Extracellular domainHHT only 12 Intracellular
W50CExtracellular domainHHT only 12, 13, 17 Intracellular
R67QExtracellular domainHHT only 10, 13 Intracellular
C77WExtracellular domainHHT only 28 Intracellular
D179AGS domainHHT with PAHNovel*Cell surface
G211DKinase domainHHT with PAHNovel*Intracellular
delS232Kinase domainHHT only 2, 12, 13 Cell surface
delD254Kinase domainHHT with PAH 10 Intracellular
S333IKinase domainHHT only 12, 13, 14, 18 Intracellular
C344YKinase domainHHT with PAH12*Intracellular
R374QKinase domainHHT with PAH14*Intracellular
P378LKinase domainHHT only 19 Intracellular
R411QKinase domainHHT with PAH2,13,14,16*Intracellular
K487TKinase domainHHT with PAHNovel*Cell surface
Q490XKinase domainHHT with PAH 10 Intracellular