TABLE 5.
Mutation |
Plasma membrane expression |
Change in phenotype |
|||
---|---|---|---|---|---|
hCNT1a | hCNT3 | hCNT1 | hCNT3b | hCNT1 | hCNT3c |
D172N | D192N | ✓ | ✓ | WT | WT |
E308Q | E329Q | ✓ | ✓ | Na+ and uridine kinetics | WT |
E308D | ✓ | Uridine kinetics only | |||
E308C | ✓ | ND | |||
E322Q | E343Q | ✓ | ✓ | Na+ and uridine kinetics, uncoupled transport | Na+ and uridine kinetics, no H+ dependence, uncoupled transport |
E322D | E343D | ✓ | ✓ | Na+ and uridine kinetics | Na+, H+, and uridine kinetics |
E322C | E343C | ✓ | ✓ | ND | Na+, H+, and uridine kinetics, Na+:uridine stoichiometry |
E338Q | E359Q | ✓ | ✓ | WT | WT |
E389Q | E410Q | ✓ | ✓ | WT | WT |
E413Q | E434Q | ✓ | ✓ | WT | WT |
E483Q | ✓ | WT | |||
D482N | D503N | x | ✓ | ? | WT |
D482E | ✓ | WT | |||
D482C | ND | ? | |||
E498Q | E519Q | x | ✓ | ? | No functional activity |
E498D | E519D | ✓ | ✓ | WT | H+ kinetics |
E498C | E519C | ND | ✓ | ? | Na+ and uridine kinetics, no H+-dependence, Na+:uridine stoichiometry |
E532Q | E553Q | x | ✓ | WT | |
E532D | x | ||||
E532C | ND | ? | |||
D565N | D586N | ✓ | ✓ | WT | WT |