Observational Study
Copyright ©The Author(s) 2021.
World J Diabetes. Nov 15, 2021; 12(11): 1957-1966
Published online Nov 15, 2021. doi: 10.4239/wjd.v12.i11.1957
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)
61212; 1416740HNF1Ac. 169C>Ap.Leu57Met0T, NA, D, D, N, L, D, D, D, DDNA-interacting
7052; 10187916KLF11c. 401G>Cp.Gly134Ala0T, N, N, T, N, N, T, T, T, NNA
8306;117237424RFX6c. 919G>Ap.Glu307Lys0.0001T, D, D, T, N, N, T, T, D, DNA
P-917; 6070581HNF1Bc. 1136C>Tp.Ser379Leu0.00003NA, D, D, NA, NA, L, D, D, D, DNA
P-174; 6292941WFS1c. 478G>Ap.Glu160Lys0T, N, N, D, N, M, D, D, D, DNA
4; 6292980c. 517G>Ap.Glu173Lys0D, D, D, D, D, M, T, T, D, D
P-686; 117241502RFX6c. 1212T>Ap.His404Gln0.0001T, D, D, T, N, L, T, T, T, DNA
P-873; 114069876ZBTB20c. 1049G>Ap.Arg350His0D, D, D, T, N, N, T, T, T, DNA
Table 2 Demographic features of patients having causal variants
ID
Age at diagnosis
Sex1
HbA1c (%)
Affectedparent2
61225F9.2M and F
705Not listed but current age 23 M5.4NA
830Not listed but current age 21F7.2NA
P-920M6.20-
P-1715FNAM
P6813M6.8M
P8725M6.10M