Table 1.
PDX1 rare variants identified in 910 patients with Type 2 diabetes and 878 control subjects
| Position of change | AA change | Case subjects (n = 910) | Control subjects (n = 878) | Nucleotide change | SIFT/PolyPhen/MutationTaster† |
|---|---|---|---|---|---|
| *c.1-25insCTCCCGG | 1 | 1 | c.-25 | NA | |
| *2 | N | 3 | 3 | c. 6 C > T | NA |
| *3 | G > A | 1 | 0 | c. 8 G > C | −/+/− |
| 18 | C > R | 0 | 1 | c. 52 T > C | +/++/− |
| *33 | P | 2 | 1 | c. 97 T > C/T > A | NA |
| 33 | P > T | 6 | 5 | c. 97 C > A | +/++/+ |
| *55 | G | 1 | 3 | c. 165 C > A | NA |
| 76 | D > N | 12 | 11 | c. 226 G > A | +/−/+ |
| *95 | P > Q | 1 | 0 | c. 284 C > A | −/−/+ |
| *96 | P > S | 0 | 1 | c. 286 C > T | −/++/− |
| *99 | P > H | 1 | 1 | c. 296 C > A | +/++/+ |
| *117 | L > M | 1 | 0 | c. 349 C > A | +/−/+ |
| 140 | A > T | 2 | 0 | c. 418 G > A | −/−/− |
| 143 | P > R | 1 | 0 | c. 428 C > G | +/+/+ |
| *160 | E > V | 1 | 0 | c. 479 A > T | +/++/+ |
| 197 | R > H | 1 | 0 | c. 590 G > A | +/+/+ |
| *198 | R > C | 2 | 0 | c. 592 C > T | +/++/+ |
| 239 | P > Q | 8 | 10 | c. 716 C > A | −/++/+ |
| *242 | P > L | 4 | 3 | c. 725 C > T | −/++/+ |
| P243insPro(GCC) | 1 | 0 | c. 726 insGCC | NA | |
| *245 | G > R | 0 | 1 | c. 733 G > A | +/+/− |
| *250 | P | 0 | 2 | c. 750 C > A | NA |
| *264 | G | 1 | 0 | c. 792 C > T | NA |
| *IVS1 + 1 (c.406 + 1G > C) | 1 | 0 | c. 406 + 1 G > C | NA | |
| *IVS2 – 8 (c.407 – 8G > T) | 0 | 1 | c. 407 – 8 G > T | NA | |
| *IVS2 + 4 (c.846*4G > A) | 1 | 0 | c. 846 + 4 G > A | NA | |
*
Novel variant.
†
SIFT/PolyPhen/MutationTaster: − tolerated, + not tolerated (SIFT)/− benign, + possibly damaging, ++ probably damaging (PolyPhen)/− polymorphism, + disease causing (MutationTaster) (http://blocks.fhcrc.org/sift/SIFT_dbSNP.html, http://genetics.bwh.harvard.edu/pph/, http://www.mutationtaster.org/).
AA, amino acid; NA, not applicable.