Table 2.
Some PDX1 mutations and their phenotypes
| 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] |
dbSNP The Single Nucleotide Polymorphism Database