Table 4. Rare coding variants identified in the 111 target candidate genes using whole exome sequencing in nine patients with suspected MODY.
| Gene | Chr:Position | Variant | dbSNP132/1000 Gbfrequency | Frequency in340 Norwegiancontrols | SIFT/PolyPhen-2/AlignGVGDa | Patient | Conclusion |
| ABCC8 | 11∶17418486 | c.4096G>A/p.A1366T | −/0 | 0 | −/+/C55 | P03 | Pathogenic |
| ALMS1 | 2∶73677199 | c.3542C>T/p.T1181I | −/0 | 0.1% | n.a/+/n.a. | P09 | |
| ARAP1 | 11∶72421497 | c.1349G>A/p.R450H | −/0 | 0 | +/−/C0 | P04 | |
| CRY2 | 11∶45893711 | c.1528G>C/p.G510R | −/0 | 0.1% | −/−/C15 | P02 | |
| GLIS3 | 9∶4286332 | c.94C>G/p.R32G | −/0 | 0 | +/+/C0 | P03 | |
| HADH | 4∶108940732 | c.456G>T/p.Q152H | rs1051519/0.2% | - | −/−/C0 | P09 | |
| HNF4A | 20∶43034848 | c.266G>A/p.R89Q | −/0 | 0 | +/++/C35 | P07 | Pathogenic |
| MADD | 11∶47317569 | c.3479G>C/p.S1160T | −/0 | 0 | −/++/C55 | P02 | |
| NOTCH2 | 1∶120468211 | c.4228C>T/p.R1410C | −/0 | 0 | +/+/C25 | P05 | |
| 1∶120478125 | c.3625T>G/p.F1209V | −/0 | 0.4% | +/+/C45 | P03 | ||
| 1∶120548095 | c.272G>T/p.R91L | FALSE | FALSE | FALSE | P05 | False positive | |
| PPARG | 3∶1258536 | c.1071G>A/p.R357X | −/0 | 0 | Nonsense | P01 | Pathogenic |
| SREBF1 | 17∶17718592 | c.2435G>A/p.R812Q | −/0 | 1.0% | −/−/C0 | P09 | |
| WFS1 | 4∶6354530 | c.2107C>T/p.R703C | −/0 | 0 | +/++/C65 | P09 |
a
SIFT: − tolerated, + not tolerated/PolyPhen-2: − benign, + possibly damaging, ++ probably damaging/Align-GVGD: the Grantham variation (GV), and the Grantham deviation (GD) are combined to provide graded classifiers from most likely to interfere with function (class C65) to least likely (class C0).
b
Allele frequencies from the interim analysis of phase I of the 1000 Genomes Project, 2010.08.04 sequence index, which included 629 samples (SNPs released in November 2010, indels released in February 2011).
Abbreviation: Chr, chromosome number; 1000 G, the 1000 Genomes Project; n.a, not analysed due to insufficient number of alignments to make prediction.