Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population

Table 1 Rare variants in cases of monogenic forms of diabetes

Case ID	Chromosome position	Gene symbol	cDNA change	Protein change	Maxfreq.	In silico prediction	Protein region byUniport (uniport.org)
612	12; 1416740	HNF1A	c. 169C>A	p.Leu57Met	0	T, NA, D, D, N, L, D, D, D, D	DNA-interacting
705	2; 10187916	KLF11	c. 401G>C	p.Gly134Ala	0	T, N, N, T, N, N, T, T, T, N	NA
830	6;117237424	RFX6	c. 919G>A	p.Glu307Lys	0.0001	T, D, D, T, N, N, T, T, D, D	NA
P-9	17; 6070581	HNF1B	c. 1136C>T	p.Ser379Leu	0.00003	NA, D, D, NA, NA, L, D, D, D, D	NA
P-17	4; 6292941	WFS1	c. 478G>A	p.Glu160Lys	0	T, N, N, D, N, M, D, D, D, D	NA
	4; 6292980		c. 517G>A	p.Glu173Lys	0	D, D, D, D, D, M, T, T, D, D
P-68	6; 117241502	RFX6	c. 1212T>A	p.His404Gln	0.0001	T, D, D, T, N, L, T, T, T, D	NA
P-87	3; 114069876	ZBTB20	c. 1049G>A	p.Arg350His	0	D, D, D, T, N, N, T, T, T, D	NA

Fathmm-MKL_coding are listed in sequence. D: Deleterious; T: Tolerated for SIFT, LRT, MetaSVM, MetaLR_pred, M-Cap prediction, FATHMM; N: Neutral for LRT and Provean. For mutation assessor, H: High; M: Medium; L: Low; N: Neutral; NA: Not available. SIFT: Sorting intolerant from tolerant; LRT: Likelihood ration test; Mutation taster, FATHMM: Functional Analysis through Hidden Markov Models; PROVEAN: Protein Variation Effect Analyzer; Mutation assessor, MetaSVM: Support vector machine; MetaLR: Logistic regression; M-CAP: Mendelian Clinically Applicable Pathogenicity.

Table 2 Demographic features of patients having causal variants

ID	Age at diagnosis	Sex1	HbA1c (%)	Affectedparent2
612	25	F	9.2	M and F
705	Not listed but current age 23	M	5.4	NA
830	Not listed but current age 21	F	7.2	NA
P-9	20	M	6.20	-
P-17	15	F	NA	M
P68	13	M	6.8	M
P87	25	M	6.10	M

¹M: Male; F: Female.

²M: Mother; F: Father.