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Table 2 Some PDX1 mutations and their phenotypes

From: Iranian neonatal diabetes mellitus due to mutation in PDX1 gene: a case report

Phenotype Mutation dbSNP
Pancreatic agenesis 1 maturity-onset diabetes of the young, Type 4, included PDX1, 1-BP DEL, 188C
Diabetes mellitus, Type Ii, susceptibility to PDX1, ASP76ASN [rs137852783]
Diabetes mellitus, Type Ii, susceptibility to PDX1, GLN59LEU [rs137852784]
Diabetes mellitus, Type Ii, susceptibility to PDX1, 3-BP INS, 243CCG
Diabetes mellitus, Type Ii, susceptibility to PDX1, CYS18ARG [rs137852785]
Diabetes mellitus, Type Ii, susceptibility to PDX1, ARG197HIS [rs137852786]
Reclassified – variant of unknown significance PDX1, GLU224LYS [rs137852787]
Pancreatic agenesis 1 Diabetes mellitus, Type Ii, susceptibility to, included PDX1, GLU164ASP [rs80356661]
Pancreatic agenesis 1 PDX1, GLU178LYS [rs80356662]
Pancreatic agenesis 1 PDX1, GLU178GLY [rs387906777]
  1. dbSNP The Single Nucleotide Polymorphism Database