Table 4. .

Functional Characterization of MC4R Nonsynonymous Variants in the Obese Cohort

				Results of Functional Studies
Variant	Sequence	n	Known or Novel	alpha-MSH Activation (EC50)	Basal Activity	Summary	Family Segregation Data
S30F	tgagt[c/t]ccttg	1	Known185	Not tested alone182	Not tested alone182	…	Not tested
G32E	ccttg[g/a]aaaag	1	Novel	.3 nM	70%	Minor	Figure 3A
E61K	tgttg[g/a]agaat	1	Novel	Low	⩽10%	Severe	Figure 3B
S127L	tgact[c/t]ggtga	1	Known182	29 nM	80%	Intermediate	Figure 3C
L211Dela	ttct[ctct/-]atgt	2	Known175	Truncated receptor	Truncated receptor	Severe	Figure 3D
P299Ha	cgatc[c/a]tctga	2	Known182	Negative	⩽10%	Severe	Figure 3E
A303T	tttat[g/a]cactc	1	Novel	Low	⩽10%	Severe	Figure 3F
C326R	gcctt[t/c]gtgac	1	Novel	.4 nM	150%	Minor	Figure 3G
Wild type	…	…	…	.3 nM	100%	…	…

^aIndividuals who had the L211Del also had the P299H variant.