TABLE 2.
Summary of the mutations, name, carriers, and functional characterization
| Mutation | Obese carriers | Nonobese carriers | Functional characterization | Ref. |
|---|---|---|---|---|
| Known | ||||
| T11A | 1 (45.61) | Like wild type | (36) | |
| R18C | 1 (52.59) | Partial | (33) | |
| R18H | 1 (40.65) | Partial | (33) | |
| S30F | 4 (21.92; 20.10; 20.80; 20.40) | Like wild type | (36) | |
| Y35X + D37V | 2 (32.42; 53.67) | No activity | (29) | |
| InsG48 | 1 (41.52) | No activity | (18) | |
| F51L | 2 (42.52; 50.68) | Like wild type | (15) | |
| I69M | 1 (45.51) | No activity | (17) | |
| Y80X | 2 (32.51; 49.68 compound htz I301T) | No activity | (17) | |
| V95I | 1 (42.78) | No activity | (33) | |
| I102T | 2 (35.25; 41.09) | Partial | (17) | |
| T112M | 7 (37.17; 20.34; 33.21; 47.58; 31.35; 39.97; 53.93) | 1 (24.70) | Partial | (10) |
| S127L | 2 (36.35; 27.22) | Partial | (13) | |
| T150I | 2 (47.87; 49.94) | Partial | (10) | |
| A154D | 2 (42.62; 39.51) | Like wild type | (19) | |
| R165W | 2 (50.86; 66.95) | 1 (24.00) | Partial | (10) |
| I170V | 3 (33.67; 49.53; 21.90) | Partial | (10) | |
| M200V | 2 (47.62; 45.00) | Like wild type | (6) | |
| F202L | 1 (22.90) | Like wild type | (34) | |
| G231S | 1 (41.62) | Partial | (17) | |
| A244E | 1 (26.28) | Like wild type | (36) | |
| L250Q | 1 (58.82) | Partial | (13) | |
| G252S | 1 (49.78) | Partial | (36) | |
| V253I | 1 (34.47) | Like wild type | (10) | |
| C271R | 1 (28.03) | Like wild type | (11) | |
| N274S | 1 (40.34) | Like wild type | (36) | |
| S295P | 1 (42.19) | 2 (25.50; 24.80) | Like wild type | (17) |
| P299H | 3 (23.30; 26.45; 36.8) | No activity | (13) | |
| I301T | 3 (42.91 hmz; 40.47 hmz; 31.78 htz) | Partial | (13) | |
| New | ||||
| H76R | 1 (30.84) | Like wild type | — | |
| S94N | 1 (67.86) | Partial | — | |
| D126Y | 1 (42.65) | No activity | — | |
| D146N | 1 (19.20) | Like wild type | — | |
| Del170V | 1 (22.22) | Not tested | — | |
| F201L | 1 (22.30) | Partial | — | |
| G231V | 1 (24.70) | Like wild type | — | |
| P260Q | 2 (23.30; 25.88) | Partial | — | |
| I289L | 1 (20.30) | No activity | — | |
| R305S | 1 (34.31) | Partial | — | |
| Y332C | 1 (20.13) | Like wild type | — | |
| Y332H | 1 (23.00) | Like wild type | — |
Data are n (BMI of the carriers, expressed as weight in kilograms divided by the square of height in meters). hmz, homozygous; htz, heterzygous.