Table 2

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

ALK-1 mutation	Location of mutation	Mutant ALK-1 constructs produced		*Reported phenotype in present series () or previous studies**		Localisation
ALK-1 mutation	Location of mutation	Myc tagged	GFP tagged	Phenotype	Reports	Localisation
†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 domain	✓		HHT only	¹²	Intracellular
W50C	Extracellular domain	✓	✓	HHT only	^12, ^13, ¹⁷	Intracellular
R67Q	Extracellular domain		✓	HHT only	^10, ¹³	Intracellular
C77W	Extracellular domain	✓	✓	HHT only	²⁸	Intracellular
D179A	GS domain		✓	HHT with PAH	Novel*	Cell surface
G211D	Kinase domain		✓	HHT with PAH	Novel*	Intracellular
delS232	Kinase domain	✓	✓	HHT only	^2, ^12, ¹³	Cell surface
delD254	Kinase domain	✓		HHT with PAH	¹⁰	Intracellular
S333I	Kinase domain		✓	HHT only	^12, ^13, ^14, ¹⁸	Intracellular
C344Y	Kinase domain	✓	✓	HHT with PAH	¹²*	Intracellular
R374Q	Kinase domain		✓	HHT with PAH	¹⁴*	Intracellular
P378L	Kinase domain	✓		HHT only	¹⁹	Intracellular
R411Q	Kinase domain		✓	HHT with PAH	^2,^13,^14,¹⁶*	Intracellular
K487T	Kinase domain	✓	✓	HHT with PAH	Novel*	Cell surface
Q490X	Kinase domain	✓		HHT with PAH	¹⁰	Intracellular