Amino acid position and change | Number of families segregating this mutation | Number of WT individuals | Number of mutation carriers | Mean BMI SDS difference |
---|---|---|---|---|
S30F | 2 | 18 | 4 | 1.2 |
[Y35X, D37V] | 8 | 23 | 22 | 1.05 |
P78L | 1 | 10 | 2 | 0.43 |
S94R | 1 | 1 | 2 | 1.04 |
V95I | 1 | 3 | 2 | −1.5 |
T112M | 1 | 2 | 2 | 0.56 |
I121T | 1 | 3 | 2 | −0.57 |
S127L | 3 | 12 | 6 | 2.18 |
R165W | 1 | 7 | 4 | 2.08 |
L211fsX216 | 2 | 19 | 10 | 2.70 |
P230L | 1 | 10 | 2 | 1.84 |
A244E | 1 | 5 | 4 | 0.50 |
L250fsX284 | 1 | 1 | 1 | −0.21 |
G252S | 1 | 2 | 16 | 2.13 |
I317T | 1 | 2 | 1 | −2.02 |
Y320fsX354 | 1 | 5 | 2 | 0.14 |