Table 5.
Mutation | Genotype | Non-Obese Patient | Obese Patient | Ref |
---|---|---|---|---|
R7H | Heterozygous | X | (71) | |
R18H | Unable to determine | X | (52) | |
R18L | Unable to determine | X | (71) | |
S36Y | Unable to determine | X | (55) | |
P48S | Heterozygous | X | (72) | |
V50M | Heterozygous | X | (58) | |
F51L | Heterozygous | X | (73) | |
E61K | Heterozygous | X | (74) | |
I69T | Heterozygous | X | (74) | |
D90N | Heterozygous | X | (66) | |
S94R | Unable to determine | X | (75) | |
G98R | Heterozygous & Homozygous | X | (76) | |
I121T | Unable to determine | X | (75) | |
A154D | Heterozygous | X | (77) | |
Y157S | Homozygous | X | (78) | |
W174C | Heterozygous | X | (79) | |
G181D | Heterozygous | X | (55, 75) | |
F202L | Heterozygous | X% | X# | %(54)#(74) |
A219V | Unable to determine | X | (55) | |
I226T | Heterozygous | X | (80, 81) | |
G231S | Heterozygous | X | (82) | |
G238D | Heterozygous | X | (74) | |
N240S | Heterozygous | X | (54) | |
750DELGA | Homozygous | X | (75) | |
C271R | Homozygous | X | (74) | |
S295P | Heterozygous | X | (77) | |
P299L | Heterozygous | X | (80) | |
E308K | Heterozygous | X | (83) | |
I317V | Heterozygous | X | (75, 79) | |
L325F | Unable to determine | X | (55) |