Amino acid position and change | Cell surface expression | Ligand binding | Signalling properties as measured by cAMP (α-MSH) assay | |
---|---|---|---|---|
IC50 | Specific binding (relative to WT) | |||
*The Y35X and D37V mutations only occur together on a haplotype and thus are not analysed separately;†The G181D mutation only occurred in an extremely obese index patient but not in his two available relatives and could therefore not be included in the statistical analysis. | ||||
LOF, loss of function; RF, reduced function. | ||||
S30F | About 120%31 | Like WT,23 RF31 | ||
[Y35X, D37V]* | LOF31 | |||
P78L | 31%,31 1%,32 0%34 | About 10%32 | RF,23 LOF,31 LOF34 | |
S94R | LOF23 | |||
V95I | LOF23 | |||
T112M | 41%,32 like WT35 | Sign. reduced32 | Like WT,29 like WT35 | |
I121T | RF23 | |||
S127L | 101%,31 like WT35 | Const. active,23 RF,31 RF35 | ||
R165W | 26%,31 9%32 | About 0%10 | RF10 | |
G181D† | LOF23 | |||
L211fsX216 | 0%30 | 0%30 | LOF,23 LOF,31 LOF30 | |
P230L | Const. active 23 | |||
A244E | 90%31 | RF,23 RF31 | ||
L250fsX284 | LOF23 | |||
G252S | About 100%31 | Like WT,23 RF31 | ||
I317T | 66%,31 42%,32 reduced33 | About 42%32 | Like WT,23 RF,31 RF33 | |
Y320fsX354 | RF23 |