This data was extracted from medline abstracts and full text papers (when available) in an automated manner.
| Mutation | Location | General numbering | Reference |
| M1P | N-term | | Capener CE et al., Biophys J 2003 | Medline |
| E23K | N-term | | Manning Fox JE et al., Mol Endocrinol 2004 | Medline |
| E23K | N-term | | Ezenwaka C et al., J Endocrinol 2005 | Medline |
| E23K | N-term | | Hansen L et al., Diabetes Obes Metab 2005 | Medline |
| E23K | N-term | | Schwanstecher C et al., Diabetes 2002 | Medline |
| E23K | N-term | | Proks P et al., Proc Natl Acad Sci U S A 2004 | Medline |
| E23K | N-term | | Edghill EL et al., Diabetes 2004 | Medline |
| E23K | N-term | | Gloyn AL et al., N Engl J Med 2004 | Medline |
| E23K | N-term | | Gloyn AL et al., Diabet Med 2001 | Medline |
| E23K | N-term | | 't Hart LM et al., Diabetes 2002 | Medline |
| R34H | N-term | | Ohkubo K et al., Clin Endocrinol (Oxf) 2005 | Medline |
| F35L | N-term | | Vaxillaire M et al., Diabetes 2004 | Medline |
| C42R | N-term | | Yorifuji T et al., J Clin Endocrinol Metab 2005 | Medline |
| H46A | N-term | | Tammaro P et al., EMBO J 2005 | Medline |
| R50Q | N-term | | Babenko AP et al., J Biol Chem 2002 | Medline |
| Q52R | N-term | | Proks P et al., Proc Natl Acad Sci U S A 2004 | Medline |
| Q52R | N-term | | Gloyn AL et al., N Engl J Med 2004 | Medline |
| G53N | N-term | | Vaxillaire M et al., Diabetes 2004 | Medline |
| V59G | N-term | | Proks P et al., Proc Natl Acad Sci U S A 2004 | Medline |
| V59G | N-term | | Gloyn AL et al., N Engl J Med 2004 | Medline |
| V59M | N-term | | Proks P et al., Proc Natl Acad Sci U S A 2004 | Medline |
| V59M | N-term | | Vaxillaire M et al., Diabetes 2004 | Medline |
| V59M | N-term | | Gloyn AL et al., N Engl J Med 2004 | Medline |
| L66K | N-term | | Inanobe A et al., J Physiol 2001 | Medline |
| K67N | N-term | | Reimann F et al., Diabetologia 2003 | Medline |
| K67N | N-term | | Huopio H et al., J Clin Endocrinol Metab 2002 | Medline |
| W91R | TRANSMEM I | 158 | Crane A et al., J Biol Chem 2004 | Medline |
| S103E | Loop 1-2 | | Inanobe A et al., J Physiol 2001 | Medline |
| V127T | Loop 1-2 | | Capener CE et al., Biophys J 2003 | Medline |
| G132I | Loop 1-2 | | Capener CE et al., Biophys J 2003 | Medline |
| G135F | Loop 1-2 | | Capener CE et al., Biophys J 2003 | Medline |
| M137C | Loop 1-2 | | Capener CE et al., Biophys J 2003 | Medline |
| L157C | TRANSMEM II | 255 | Shyng SL et al., J Gen Physiol 2000 | Medline |
| N160Q | TRANSMEM II | 258 | Shyng SL et al., J Gen Physiol 2000 | Medline |
| F168A | C-term | | Inanobe A et al., J Physiol 2001 | Medline |
| R176A | C-term | | Shyng SL et al., J Gen Physiol 2000 | Medline |
| R176C | C-term | | Edghill EL et al., Diabetes 2004 | Medline |
| R177A | C-term | | Shyng SL et al., J Gen Physiol 2000 | Medline |
| T180A | C-term | | Tammaro P et al., EMBO J 2005 | Medline |
| L181A | C-term | | Tammaro P et al., EMBO J 2005 | Medline |
| I182V | C-term | | Tammaro P et al., EMBO J 2005 | Medline |
| K185Q | C-term | | Shyng SL et al., J Gen Physiol 2000 | Medline |
| K185Q | C-term | | Babenko AP et al., J Biol Chem 2002 | Medline |
| R192A | C-term | | Shyng SL et al., J Gen Physiol 2000 | Medline |
| R195A | C-term | | Shyng SL et al., J Gen Physiol 2000 | Medline |
| R201A | C-term | | Shyng SL et al., J Gen Physiol 2000 | Medline |
| R201C | C-term | | Proks P et al., Proc Natl Acad Sci U S A 2004 | Medline |
| R201C | C-term | | Edghill EL et al., Diabetes 2004 | Medline |
| R201C | C-term | | Vaxillaire M et al., Diabetes 2004 | Medline |
| R201C | C-term | | Gloyn AL et al., J Clin Endocrinol Metab 2004 | Medline |
| R201C | C-term | | Gloyn AL et al., N Engl J Med 2004 | Medline |
| R201H | C-term | | Tammaro P et al., EMBO J 2005 | Medline |
| R201H | C-term | | Proks P et al., Proc Natl Acad Sci U S A 2004 | Medline |
| R201H | C-term | | Edghill EL et al., Diabetes 2004 | Medline |
| R201H | C-term | | Vaxillaire M et al., Diabetes 2004 | Medline |
| R201H | C-term | | Gloyn AL et al., N Engl J Med 2004 | Medline |
| R206A | C-term | | Shyng SL et al., J Gen Physiol 2000 | Medline |
| K222A | C-term | | Shyng SL et al., J Gen Physiol 2000 | Medline |
| L270V | C-term | | Schwanstecher C et al., Diabetes 2002 | Medline |
| L270V | C-term | | Edghill EL et al., Diabetes 2004 | Medline |
| I296L | C-term | | Tammaro P et al., EMBO J 2005 | Medline |
| I296L | C-term | | Proks P et al., EMBO Rep 2005 | Medline |
| I296L | C-term | | Gloyn AL et al., N Engl J Med 2004 | Medline |
| R301A | C-term | | Shyng SL et al., J Gen Physiol 2000 | Medline |
| R314A | C-term | | Shyng SL et al., J Gen Physiol 2000 | Medline |
| E322K | C-term | | Vaxillaire M et al., Diabetes 2004 | Medline |
| Y326F | C-term | | Pil J et al., Br J Pharmacol 2001 | Medline |
| Y330C | C-term | | Tammaro P et al., EMBO J 2005 | Medline |
| Y330C | C-term | | Vaxillaire M et al., Diabetes 2004 | Medline |
| Y330L | C-term | | Tammaro P et al., EMBO J 2005 | Medline |
| F333I | C-term | | Tammaro P et al., EMBO J 2005 | Medline |
| F333L | C-term | | Tammaro P et al., EMBO J 2005 | Medline |
| G334D | C-term | | Tammaro P et al., EMBO J 2005 | Medline |
| G334D | C-term | | Babenko AP et al., J Biol Chem 2002 | Medline |
| I337V | C-term | | Schwanstecher C et al., Diabetes 2002 | Medline |
| I337V | C-term | | Edghill EL et al., Diabetes 2004 | Medline |
| S385C | C-term | | Edghill EL et al., Diabetes 2004 | Medline |