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] |