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. 2020 Nov 4;6:20. doi: 10.1186/s40842-020-00112-5

Table 2.

MODY genes, chromosomal loci, and types of causative mutations

Gene Chromosomal locus Types of mutations References
HNF4A 20q13.12 Missense, frameshift, splice site, nonsense, indel, deletion, insertion [47, 49, 50]
HNF1A 12q24.31 Missense, frameshift, splice site, nonsense, indel, deletion, insertion [47, 49, 51]
PDX1/IPF1 13q12.2 Missense, nonsense, deletion, insertion [47, 49, 52]
HNF1B 17q12 Missense, frameshift, splice site, nonsense, indel, deletion, insertion [47, 49, 53]
NEUROD1 2q32 Missense, frameshift, nonsense, indel, deletion, insertion [47, 49, 54]
KLF11 2p25 Missense [47, 49, 55]
PAX4 7q32 Missense, splice site, deletion [47, 49, 56]
BLK 8p23 Missense [47, 49, 57]
GCK 7p13 Missense, frameshift, splice site, nonsense, indel, deletion, insertion [47, 49, 58]
CEL 9q34 Missense, frameshift, indel, deletion, insertion [47, 49, 59]
INS 11p15.5 Missense, splice site, nonsense, indel, insertion [47, 49, 60]
ABCC8 11p15 Missense [47, 61, 62]
KCNJ11 11p15 Missense [47, 63, 64]
APPL1 3p14.3 Missense, nonsense [49, 65, 66]