Table 3.

Finally identified variants in MODY families and the results of the predictive program

Family ID	Gene	Type of MODY	Chromosome:Position	rs	Variant	Minor Allele Frequency	Polyphen2	Sorting Intolerant From Tolerant
1	WFS1	14	4:6303248	rs1805069	exon8: c.1726G->A: p.G576S	0.022364	0.882	0.031
2	WFS1	14	4:6303248	rs1805069	exon8: c.1726G->A: p.G576S	0.022364	0.882	0.031
3	WFS1	14	4:6303248	rs1805069	exon8: c.1726G->A: p.G576S	0.022364	0.882	0.031
	CEL	8	9: 135937390	rs534848722	exon1: c.10A>G: p.M4V	0.000199681	0.994	0.149
4	PAX4	9	7:127253551	rs3824004	exon5: c.574G->T: p.R192S	0.004593	0.998	0.0
5	PAX4	9	7:127253551	rs3824004	exon5: c.574G->T: p.R192S	0.004593	Has been reported
							www.ncbi.nlm.nih.gov/clinvar/variation/358801/
6	CEL	8	9: 135942033	NA	exon5: c.664A>G	NA	1.0	0.033
					p.S222G
7	HNF1B	5	17:36091624	NA	exon4: c.1007A>G: p.H336R	NA	Has been reported (1)
8	WFS1	14	4:6304118	rs3821945	exon8: c.2596G>A	0.00658946	0.95	0.274
					p.D866N		Hotspot for pathogenic mutations
9	ABCC8	12	11: 17482222	rs185040406	exon6: c.824G>A	0.0008	Has been reported
					p.R275Q

Polyphen2: ranges from 0 to 1. The amino acid substitution is predicted tolerated if the score is <0.5, and deleterious if the score is ≥0.5. The higher score, the more likely the variant to be damaging. Sorting Intolerant From Tolerant: ranges from 0 to 1. The amino acid substitution is predicted deleterious if the score is <0.0, and tolerated if the score is ≥0.05. The lower score, the more likely the variant to be damaging. MODY, maturity-onset diabetes in young; NA, not available.