2005, KChannelDB.
This data was extracted from medline abstracts and full text papers (when available) in an automated manner.
| Protein | KCNH2_HUMAN (KCNH2,ERG, ERG1, HERG, HERG) | Swiss-Prot Cross-reference table Family page |
| Protein isoforms | 4 | |
| Family alignments |
eag related KCNH (Kv10-12) K+ voltage-gated channels (Kv1-12,Kca2-5) Potassium channels 6 TMs |
| Mutation | Location | General numbering | Reference | |
|---|---|---|---|---|
| P2X | N-term | Mullins FM et al., J Gen Physiol 2002 | Medline | |
| A3G | N-term | Larsen LA et al., Clin Chem 2001 | Medline | |
| F14A | N-term | Korolkova YV et al., J Biol Chem 2002 | Medline | |
| R20A | N-term | Korolkova YV et al., J Biol Chem 2002 | Medline | |
| S26I | N-term | Moss AJ et al., Circulation 2002 | Medline | |
| R27A | N-term | Korolkova YV et al., J Biol Chem 2002 | Medline | |
| R27C | N-term | Yang Y et al., Am J Hum Genet 2004 | Medline | |
| R27K | N-term | Korolkova YV et al., J Biol Chem 2001 | Medline | |
| R27K | N-term | Korolkova YV et al., J Biol Chem 2002 | Medline | |
| K28E | N-term | Rossenbacker T et al., Circulation 2005 | Medline | |
| F29L | N-term | Larsen LA et al., Clin Chem 2001 | Medline | |
| F29L | N-term | Moss AJ et al., Circulation 2002 | Medline | |
| N33T | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| N33T | N-term | Moss AJ et al., Circulation 2002 | Medline | |
| C44F | N-term | Lupoglazoff JM et al., Circulation 2001 | Medline | |
| G47V | N-term | Moss AJ et al., Circulation 2002 | Medline | |
| G53R | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| R56Q | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| R56Q | N-term | Clancy CE et al., Cardiovasc Res 2001 | Medline | |
| R56Q | N-term | Aydar E et al., J Physiol 2001 | Medline | |
| R56Q | N-term | Moss AJ et al., Circulation 2002 | Medline | |
| R57A | N-term | Malherbe P et al., Mol Pharmacol 2001 | Medline | |
| R57K | N-term | Malherbe P et al., Mol Pharmacol 2001 | Medline | |
| R57Y | N-term | Malherbe P et al., Mol Pharmacol 2001 | Medline | |
| E58K | N-term | Lupoglazoff JM et al., Circulation 2001 | Medline | |
| T65P | N-term | Paulussen A et al., J Biol Chem 2002 | Medline | |
| T65P | N-term | Gong Q et al., Am J Physiol Heart Circ Physiol 2004 | Medline | |
| C66G | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| C66G | N-term | Moss AJ et al., Circulation 2002 | Medline | |
| D67P | N-term | Paulussen A et al., J Biol Chem 2002 | Medline | |
| H70R | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| H70R | N-term | Moss AJ et al., Circulation 2002 | Medline | |
| H70R | N-term | Westenskow P et al., Circulation 2004 | Medline | |
| A78P | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| A78P | N-term | Moss AJ et al., Circulation 2002 | Medline | |
| L86R | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| L86R | N-term | Moss AJ et al., Circulation 2002 | Medline | |
| I96T | N-term | Larsen LA et al., Clin Chem 2001 | Medline | |
| K101E | N-term | Larsen LA et al., Clin Chem 2001 | Medline | |
| P114S | N-term | Lupoglazoff JM et al., Circulation 2001 | Medline | |
| M124R | N-term | Moss AJ et al., Circulation 2002 | Medline | |
| E130K | N-term | Thu-Thuy LT et al., Jpn Heart J 2004 | Medline | |
| S140G | N-term | Yang Y et al., Am J Hum Genet 2004 | Medline | |
| A166S | N-term | Malherbe P et al., Mol Pharmacol 2001 | Medline | |
| R174C | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| R174H | N-term | Lupoglazoff JM et al., J Am Coll Cardiol 2004 | Medline | |
| R176W | N-term | Laitinen P et al., Hum Mutat 2000 | Medline | |
| R176W | N-term | Fodstad H et al., Ann Med 2004 | Medline | |
| R185Q | N-term | Malherbe P et al., Mol Pharmacol 2001 | Medline | |
| L200R | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| F211Y | N-term | Hajdu P et al., Cardiovasc Res 2003 | Medline | |
| R271L | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| R271Q | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| S283A | N-term | Gomez-Varela D et al., FEBS Lett 2003 | Medline | |
| G306E | N-term | Garcia LR et al., J Neurosci 2003 | Medline | |
| G306V | N-term | Liu W et al., Chin Med J (Engl) 2003 | Medline | |
| A313T | N-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| R328C | N-term | Chevalier P et al., Cardiovasc Res 2001 | Medline | |
| P334L | N-term | Lupoglazoff JM et al., Circulation 2001 | Medline | |
| P347S | N-term | Westenskow P et al., Circulation 2004 | Medline | |
| P347S | N-term | Paulussen AD et al., J Mol Med 2004 | Medline | |
| R354K | N-term | Oberholzer U et al., Eukaryot Cell 2002 | Medline | |
| R366X | N-term | Larsen LA et al., Clin Chem 2001 | Medline | |
| S366A | N-term | Oberholzer U et al., Eukaryot Cell 2002 | Medline | |
| S366D | N-term | Oberholzer U et al., Eukaryot Cell 2002 | Medline | |
| S371A | N-term | Oberholzer U et al., Eukaryot Cell 2002 | Medline | |
| S371E | N-term | Oberholzer U et al., Eukaryot Cell 2002 | Medline | |
| L385A | N-term | Hayashi K et al., Cardiovasc Res 2002 | Medline | |
| I400N | N-term | Larsen LA et al., Clin Chem 2001 | Medline | |
| V408C | TRANSMEM I | 145 | Dworakowska B et al., Acta Biochim Pol 2000 | Medline |
| D411C | TRANSMEM I | 148 | Liu J et al., J Gen Physiol 2003 | Medline |
| L413P | TRANSMEM I | 150 | Liu W et al., Hum Mutat 2002 | Medline |
| L413P | TRANSMEM I | 150 | Liu W et al., Chin Med J (Engl) 2003 | Medline |
| P426S | Loop 1-2 | Garcia LR et al., J Neurosci 2003 | Medline | |
| S428L | Loop 1-2 | Moss AJ et al., Circulation 2002 | Medline | |
| T436M | Loop 1-2 | Moss AJ et al., Circulation 2002 | Medline | |
| E444D | Loop 1-2 | Liu W et al., Hum Mutat 2002 | Medline | |
| I447V | Loop 1-2 | Petersen CI et al., Proc Natl Acad Sci U S A 2004 | Medline | |
| P451L | Loop 1-2 | Laitinen P et al., Hum Mutat 2000 | Medline | |
| A453S | Loop 1-2 | Ficker E et al., Mol Pharmacol 2001 | Medline | |
| A453S | Loop 1-2 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline | |
| D456A | Loop 1-2 | Piper DR et al., J Biol Chem 2005 | Medline | |
| D456C | Loop 1-2 | Liu J et al., J Gen Physiol 2003 | Medline | |
| D460A | Loop 1-2 | Piper DR et al., J Biol Chem 2005 | Medline | |
| D460C | Loop 1-2 | Liu J et al., J Gen Physiol 2003 | Medline | |
| D466C | TRANSMEM II | 241 | Liu J et al., J Gen Physiol 2003 | Medline |
| D466V | TRANSMEM II | 241 | Liu J et al., J Gen Physiol 2003 | Medline |
| T469S | TRANSMEM II | 244 | Lees-Miller JP et al., Mol Pharmacol 2000 | Medline |
| T469V | TRANSMEM II | 244 | Lees-Miller JP et al., Mol Pharmacol 2000 | Medline |
| N470D | TRANSMEM II | 245 | Kagan A et al., J Biol Chem 2000 | Medline |
| N470D | TRANSMEM II | 245 | Ficker E et al., Am J Physiol Heart Circ Physiol 2000 | Medline |
| N470D | TRANSMEM II | 245 | Delisle BP et al., J Biol Chem 2003 | Medline |
| N470D | TRANSMEM II | 245 | Ficker E et al., J Mol Cell Cardiol 2000 | Medline |
| N470D | TRANSMEM II | 245 | Dworakowska B et al., Acta Biochim Pol 2000 | Medline |
| N470D | TRANSMEM II | 245 | Ficker E et al., J Biol Chem 2002 | Medline |
| N470D | TRANSMEM II | 245 | Kupershmidt S et al., J Biol Chem 2002 | Medline |
| N470D | TRANSMEM II | 245 | Rajamani S et al., Circulation 2002 | Medline |
| N470D | TRANSMEM II | 245 | Paulussen A et al., J Biol Chem 2002 | Medline |
| N470D | TRANSMEM II | 245 | Gong Q et al., Am J Physiol Heart Circ Physiol 2004 | Medline |
| T474I | TRANSMEM II | 249 | Clancy CE et al., Cardiovasc Res 2001 | Medline |
| A478G | TRANSMEM II | 253 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline |
| A490T | Loop 2-3 | Yoshida H et al., Am J Med Genet 2001 | Medline | |
| Y493C | Loop 2-3 | Lupoglazoff JM et al., J Am Coll Cardiol 2004 | Medline | |
| D501C | TRANSMEM III | 344 | Liu J et al., J Gen Physiol 2003 | Medline |
| D501N | TRANSMEM III | 344 | Lupoglazoff JM et al., J Am Coll Cardiol 2004 | Medline |
| D501R | TRANSMEM III | 344 | Lupoglazoff JM et al., J Am Coll Cardiol 2004 | Medline |
| D509C | TRANSMEM III | 352 | Liu J et al., J Gen Physiol 2003 | Medline |
| G514A | Loop 3-4 | Priori SG et al., Circ Res 2005 | Medline | |
| G514A | Loop 3-4 | Piper DR et al., J Biol Chem 2005 | Medline | |
| G516A | Loop 3-4 | Piper DR et al., J Biol Chem 2005 | Medline | |
| S517A | Loop 3-4 | Piper DR et al., J Biol Chem 2005 | Medline | |
| E518A | Loop 3-4 | Johnson JP Jr et al., J Neurosci 2001 | Medline | |
| E518A | Loop 3-4 | Piper DR et al., J Biol Chem 2005 | Medline | |
| E518C | Loop 3-4 | Smith PL et al., J Gen Physiol 2002 | Medline | |
| E519A | Loop 3-4 | Johnson JP Jr et al., J Neurosci 2001 | Medline | |
| E519C | Loop 3-4 | Smith PL et al., J Gen Physiol 2002 | Medline | |
| L520C | Loop 3-4 | Smith PL et al., J Gen Physiol 2002 | Medline | |
| L520V | Loop 3-4 | Liu W et al., Chin Med J (Engl) 2003 | Medline | |
| G522A | Loop 3-4 | Piper DR et al., J Biol Chem 2005 | Medline | |
| L523A | Loop 3-4 | Piper DR et al., J Biol Chem 2005 | Medline | |
| L524A | TRANSMEM IV | 443 | Piper DR et al., J Biol Chem 2005 | Medline |
| K525A | TRANSMEM IV | 444 | Piper DR et al., J Biol Chem 2005 | Medline |
| K525C | TRANSMEM IV | 444 | Subbiah RN et al., J Physiol 2004 | Medline |
| K525Q | TRANSMEM IV | 444 | Subbiah RN et al., J Physiol 2004 | Medline |
| A527V | TRANSMEM IV | 446 | Piper DR et al., J Biol Chem 2005 | Medline |
| R528A | TRANSMEM IV | 447 | Piper DR et al., J Biol Chem 2005 | Medline |
| R528H | TRANSMEM IV | 447 | Dworakowska B et al., Acta Biochim Pol 2000 | Medline |
| R528Q | TRANSMEM IV | 447 | Subbiah RN et al., J Physiol 2004 | Medline |
| L529A | TRANSMEM IV | 448 | Piper DR et al., J Biol Chem 2005 | Medline |
| R531A | TRANSMEM IV | 450 | Piper DR et al., J Biol Chem 2005 | Medline |
| R531Q | TRANSMEM IV | 450 | Subbiah RN et al., J Physiol 2004 | Medline |
| R534A | TRANSMEM IV | 453 | Piper DR et al., J Biol Chem 2005 | Medline |
| R534C | TRANSMEM IV | 453 | Dworakowska B et al., Acta Biochim Pol 2000 | Medline |
| R534C | TRANSMEM IV | 453 | Larsen LA et al., Clin Chem 2001 | Medline |
| R534C | TRANSMEM IV | 453 | Hayashi K et al., Cardiovasc Res 2002 | Medline |
| R534Q | TRANSMEM IV | 453 | Piper DR et al., J Biol Chem 2005 | Medline |
| R534Q | TRANSMEM IV | 453 | Subbiah RN et al., J Physiol 2004 | Medline |
| V535A | TRANSMEM IV | 454 | Piper DR et al., J Biol Chem 2005 | Medline |
| A536V | TRANSMEM IV | 455 | Piper DR et al., J Biol Chem 2005 | Medline |
| R537A | TRANSMEM IV | 456 | Piper DR et al., J Biol Chem 2005 | Medline |
| R537Q | TRANSMEM IV | 456 | Subbiah RN et al., J Physiol 2004 | Medline |
| K538A | TRANSMEM IV | 457 | Piper DR et al., J Biol Chem 2005 | Medline |
| D540A | TRANSMEM IV | 459 | Mitcheson JS et al., J Gen Physiol 2000 | Medline |
| D540A | TRANSMEM IV | 459 | Piper DR et al., J Biol Chem 2005 | Medline |
| D540K | TRANSMEM IV | 459 | Mitcheson JS et al., J Gen Physiol 2000 | Medline |
| D540K | TRANSMEM IV | 459 | Numaguchi H et al., Circ Res 2000 | Medline |
| D540K | TRANSMEM IV | 459 | Tseng G et al., J Mol Cell Cardiol 2001 | Medline |
| D540K | TRANSMEM IV | 459 | Chen J et al., Proc Natl Acad Sci U S A 2001 | Medline |
| D540K | TRANSMEM IV | 459 | Ficker E et al., Mol Pharmacol 2001 | Medline |
| D540K | TRANSMEM IV | 459 | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline |
| D540K | TRANSMEM IV | 459 | Witchel HJ et al., Mol Pharmacol 2004 | Medline |
| D540K | TRANSMEM IV | 459 | Perry M et al., Mol Pharmacol 2004 | Medline |
| D540K | TRANSMEM IV | 459 | Mullins FM et al., J Physiol 2004 | Medline |
| D540R | TRANSMEM IV | 459 | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline |
| R541A | TRANSMEM IV | 460 | Piper DR et al., J Biol Chem 2005 | Medline |
| Y542A | Loop 4-5 | Piper DR et al., J Biol Chem 2005 | Medline | |
| S543A | Loop 4-5 | Piper DR et al., J Biol Chem 2005 | Medline | |
| E544A | Loop 4-5 | Piper DR et al., J Biol Chem 2005 | Medline | |
| L552S | Loop 4-5 | Moss AJ et al., Circulation 2002 | Medline | |
| L552S | Loop 4-5 | Johnson WH Jr et al., Pediatr Res 2003 | Medline | |
| L552S | Loop 4-5 | Langheinrich U et al., Toxicol Appl Pharmacol 2003 | Medline | |
| L559H | Loop 4-5 | Liu W et al., Chin Med J (Engl) 2003 | Medline | |
| A561T | Loop 4-5 | Lupoglazoff JM et al., Circulation 2001 | Medline | |
| A561T | Loop 4-5 | Moss AJ et al., Circulation 2002 | Medline | |
| A561V | Loop 4-5 | Kagan A et al., J Biol Chem 2000 | Medline | |
| A561V | Loop 4-5 | Nakajima T et al., FEBS Lett 2000 | Medline | |
| A561V | Loop 4-5 | Ficker E et al., Circ Res 2003 | Medline | |
| A561V | Loop 4-5 | Ficker E et al., J Mol Cell Cardiol 2000 | Medline | |
| A561V | Loop 4-5 | Larsen LA et al., Clin Chem 2001 | Medline | |
| A561V | Loop 4-5 | Ficker E et al., J Biol Chem 2002 | Medline | |
| A561V | Loop 4-5 | Hayashi K et al., Cardiovasc Res 2002 | Medline | |
| A561V | Loop 4-5 | Paulussen A et al., J Biol Chem 2002 | Medline | |
| A561V | Loop 4-5 | Gong Q et al., Am J Physiol Heart Circ Physiol 2004 | Medline | |
| L564P | TRANSMEM V | 550 | St-Pierre J et al., Can J Cardiol 2000 | Medline |
| L564P | TRANSMEM V | 550 | Ficker E et al., J Mol Cell Cardiol 2000 | Medline |
| W568C | TRANSMEM V | 554 | Lupoglazoff JM et al., Circulation 2001 | Medline |
| Y569H | TRANSMEM V | 555 | Laitinen P et al., Hum Mutat 2000 | Medline |
| G572C | TRANSMEM V | 558 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline |
| G572R | TRANSMEM V | 558 | Larsen LA et al., Clin Genet 2000 | Medline |
| G572R | TRANSMEM V | 558 | Larsen LA et al., Clin Chem 2001 | Medline |
| N573C | TRANSMEM V | 559 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline |
| N573C | TRANSMEM V | 559 | Liu J et al., J Gen Physiol 2002 | Medline |
| E575C | TRANSMEM V | 561 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline |
| E575G | TRANSMEM V | 561 | Lupoglazoff JM et al., Circulation 2001 | Medline |
| H578C | TRANSMEM V | 564 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline |
| H578D | TRANSMEM V | 564 | Pannaccione A et al., J Biol Chem 2002 | Medline |
| H578K | TRANSMEM V | 564 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline |
| D580A | Loop 5-6 | Pardo-Lopez L et al., FEBS Lett 2002 | Medline | |
| D580C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| R582C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| I583C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| G584C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| G584S | Loop 5-6 | Laitinen P et al., Hum Mutat 2000 | Medline | |
| W585C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| W585C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| L586C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| H587C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| H587C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| H587K | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| H587P | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| H587P | Loop 5-6 | Hayashi K et al., Cardiovasc Res 2002 | Medline | |
| H587P | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| H587Y | Loop 5-6 | Pannaccione A et al., J Biol Chem 2002 | Medline | |
| N588C | Loop 5-6 | Brugada R et al., Circulation 2004 | Medline | |
| N588C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| N588K | Loop 5-6 | Brugada R et al., Circulation 2004 | Medline | |
| N588K | Loop 5-6 | Hong K et al., J Cardiovasc Electrophysiol 2005 | Medline | |
| N588K | Loop 5-6 | Priori SG et al., Circ Res 2005 | Medline | |
| L589C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| G590C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| G590C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| D591A | Loop 5-6 | Pardo-Lopez L et al., FEBS Lett 2002 | Medline | |
| D591C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| D591C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| Q592C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| Q592C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| I593C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| I593C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| I593R | Loop 5-6 | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| I593R | Loop 5-6 | Pardo-Lopez L et al., FEBS Lett 2002 | Medline | |
| G594C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| K595C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| K595C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| A596T | Loop 5-6 | Oberholzer U et al., Eukaryot Cell 2002 | Medline | |
| P596C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| P596L | Loop 5-6 | Moss AJ et al., Circulation 2002 | Medline | |
| Y597C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| N598Q | Loop 5-6 | Pardo-Lopez L et al., FEBS Lett 2002 | Medline | |
| N598Q | Loop 5-6 | Kupershmidt S et al., J Biol Chem 2002 | Medline | |
| N598Q | Loop 5-6 | Gong Q et al., Am J Physiol Heart Circ Physiol 2002 | Medline | |
| G601S | Loop 5-6 | Laitinen P et al., Hum Mutat 2000 | Medline | |
| G601S | Loop 5-6 | Delisle BP et al., J Biol Chem 2003 | Medline | |
| G601S | Loop 5-6 | Ficker E et al., J Mol Cell Cardiol 2000 | Medline | |
| G601S | Loop 5-6 | Ficker E et al., J Biol Chem 2002 | Medline | |
| G601S | Loop 5-6 | Rajamani S et al., Circulation 2002 | Medline | |
| G601S | Loop 5-6 | Paulussen A et al., J Biol Chem 2002 | Medline | |
| S601G | Loop 5-6 | Gong Q et al., Am J Physiol Heart Circ Physiol 2004 | Medline | |
| G604S | Loop 5-6 | Moss AJ et al., Circulation 2002 | Medline | |
| G604S | Loop 5-6 | Lupoglazoff JM et al., J Am Coll Cardiol 2004 | Medline | |
| P605C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| P605C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| K608C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| K608C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| D609C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| D609C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| D609G | Loop 5-6 | Yamaguchi M et al., Clin Sci (Lond) 2005 | Medline | |
| D609N | Loop 5-6 | Lupoglazoff JM et al., Circulation 2001 | Medline | |
| D609N | Loop 5-6 | Moss AJ et al., Circulation 2002 | Medline | |
| K610C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| K610C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| Y611C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| Y611H | Loop 5-6 | Nakajima T et al., FEBS Lett 2000 | Medline | |
| Y611H | Loop 5-6 | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| Y611H | Loop 5-6 | Huang FD et al., Circulation 2001 | Medline | |
| Y611H | Loop 5-6 | Gong Q et al., J Biol Chem 2005 | Medline | |
| Y611H | Loop 5-6 | Kupershmidt S et al., J Biol Chem 2002 | Medline | |
| Y611H | Loop 5-6 | Paulussen A et al., J Biol Chem 2002 | Medline | |
| V612L | Loop 5-6 | Huang FD et al., Circulation 2001 | Medline | |
| T613C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| T613M | Loop 5-6 | Laitinen P et al., Hum Mutat 2000 | Medline | |
| T613M | Loop 5-6 | Lupoglazoff JM et al., Circulation 2001 | Medline | |
| T613M | Loop 5-6 | Huang FD et al., Circulation 2001 | Medline | |
| T613M | Loop 5-6 | Moss AJ et al., Circulation 2002 | Medline | |
| T613M | Loop 5-6 | Lupoglazoff JM et al., J Am Coll Cardiol 2004 | Medline | |
| T613M | Loop 5-6 | Komiya N et al., Pacing Clin Electrophysiol 2004 | Medline | |
| A614V | Loop 5-6 | Huang FD et al., Circulation 2001 | Medline | |
| A614V | Loop 5-6 | Thu-Thuy LT et al., Jpn Heart J 2004 | Medline | |
| L615V | Loop 5-6 | Huang FD et al., Circulation 2001 | Medline | |
| S620C | Loop 5-6 | Ficker E et al., Mol Pharmacol 2001 | Medline | |
| S620T | Loop 5-6 | Lees-Miller JP et al., Mol Pharmacol 2000 | Medline | |
| S620T | Loop 5-6 | Wang J et al., J Gen Physiol 2000 | Medline | |
| S620T | Loop 5-6 | Viloria CG et al., Biophys J 2000 | Medline | |
| S620T | Loop 5-6 | Thomas D et al., J Pharmacol Exp Ther 2001 | Medline | |
| S620T | Loop 5-6 | Ficker E et al., Mol Pharmacol 2001 | Medline | |
| S620T | Loop 5-6 | Pardo-Lopez L et al., FEBS Lett 2002 | Medline | |
| S620T | Loop 5-6 | Kiesecker C et al., Naunyn Schmiedebergs Arch Pharmacol 2004 | Medline | |
| S620T | Loop 5-6 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline | |
| S620T | Loop 5-6 | Gomez-Varela D et al., FEBS Lett 2003 | Medline | |
| S620T | Loop 5-6 | Weerapura M et al., Pflugers Arch 2002 | Medline | |
| S621N | Loop 5-6 | Lupoglazoff JM et al., Circulation 2001 | Medline | |
| S621N | Loop 5-6 | Larsen LA et al., Clin Chem 2001 | Medline | |
| S621N | Loop 5-6 | Lupoglazoff JM et al., J Am Coll Cardiol 2004 | Medline | |
| T623A | Loop 5-6 | Ficker E et al., Mol Pharmacol 2001 | Medline | |
| T623A | Loop 5-6 | Kamiya K et al., Mol Pharmacol 2001 | Medline | |
| T623A | Loop 5-6 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline | |
| T623A | Loop 5-6 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline | |
| S624A | Loop 5-6 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline | |
| S624A | Loop 5-6 | Kamiya K et al., Mol Pharmacol 2001 | Medline | |
| S624A | Loop 5-6 | Mullins FM et al., J Gen Physiol 2002 | Medline | |
| S624A | Loop 5-6 | Perry M et al., Mol Pharmacol 2004 | Medline | |
| S624T | Loop 5-6 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline | |
| S624T | Loop 5-6 | Mullins FM et al., J Gen Physiol 2002 | Medline | |
| V625A | Loop 5-6 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline | |
| V625A | Loop 5-6 | Kamiya K et al., Mol Pharmacol 2001 | Medline | |
| V625A | Loop 5-6 | Ishii K et al., FEBS Lett 2001 | Medline | |
| V625A | Loop 5-6 | Sanchez-Chapula JA et al., J Biol Chem 2002 | Medline | |
| V625A | Loop 5-6 | Sanchez-Chapula JA et al., Mol Pharmacol 2003 | Medline | |
| V625A | Loop 5-6 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline | |
| F627L | Loop 5-6 | Moss AJ et al., Circulation 2002 | Medline | |
| G628C | Loop 5-6 | Piper DR et al., Proc Natl Acad Sci U S A 2003 | Medline | |
| G628C | Loop 5-6 | Mitcheson JS et al., J Gen Physiol 2000 | Medline | |
| G628C | Loop 5-6 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline | |
| G628C | Loop 5-6 | Kamiya K et al., Mol Pharmacol 2001 | Medline | |
| G628C | Loop 5-6 | Ficker E et al., Mol Pharmacol 2001 | Medline | |
| G628C | Loop 5-6 | Sanchez-Chapula JA et al., J Biol Chem 2002 | Medline | |
| G628C | Loop 5-6 | Piper DR et al., J Biol Chem 2005 | Medline | |
| G628S | Loop 5-6 | Lees-Miller JP et al., Circ Res 2000 | Medline | |
| G628S | Loop 5-6 | Ficker E et al., J Mol Cell Cardiol 2000 | Medline | |
| G628S | Loop 5-6 | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| G628S | Loop 5-6 | Hoppe UC et al., Proc Natl Acad Sci U S A 2001 | Medline | |
| G628S | Loop 5-6 | Tseng G et al., J Mol Cell Cardiol 2001 | Medline | |
| G628S | Loop 5-6 | Langheinrich U et al., Toxicol Appl Pharmacol 2003 | Medline | |
| G628S | Loop 5-6 | Lupoglazoff JM et al., J Am Coll Cardiol 2004 | Medline | |
| N629D | Loop 5-6 | Lees-Miller JP et al., Circ Res 2000 | Medline | |
| N629D | Loop 5-6 | Ficker E et al., J Mol Cell Cardiol 2000 | Medline | |
| N629D | Loop 5-6 | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| N629D | Loop 5-6 | Clancy CE et al., Cardiovasc Res 2001 | Medline | |
| N629D | Loop 5-6 | Hayashi K et al., Cardiovasc Res 2002 | Medline | |
| N629D | Loop 5-6 | Teng GQ et al., Cardiovasc Res 2003 | Medline | |
| N629D | Loop 5-6 | Hajdu P et al., Cardiovasc Res 2003 | Medline | |
| N629Q | Loop 5-6 | Kupershmidt S et al., J Biol Chem 2002 | Medline | |
| N629Q | Loop 5-6 | Gong Q et al., Am J Physiol Heart Circ Physiol 2002 | Medline | |
| N629S | Loop 5-6 | Larsen LA et al., Clin Chem 2001 | Medline | |
| N629S | Loop 5-6 | Moss AJ et al., Circulation 2002 | Medline | |
| V630A | Loop 5-6 | Moss AJ et al., Circulation 2002 | Medline | |
| V630L | Loop 5-6 | Lees-Miller JP et al., Circ Res 2000 | Medline | |
| V630L | Loop 5-6 | Hayashi K et al., Cardiovasc Res 2002 | Medline | |
| S631A | Loop 5-6 | Lees-Miller JP et al., Mol Pharmacol 2000 | Medline | |
| S631A | Loop 5-6 | Piper DR et al., Proc Natl Acad Sci U S A 2003 | Medline | |
| S631A | Loop 5-6 | Weerapura M et al., J Physiol 2000 | Medline | |
| S631A | Loop 5-6 | Milnes JT et al., Br J Pharmacol 2003 | Medline | |
| S631A | Loop 5-6 | Paul AA et al., Biochem Biophys Res Commun 2001 | Medline | |
| S631A | Loop 5-6 | Ficker E et al., Mol Pharmacol 2001 | Medline | |
| S631A | Loop 5-6 | Piper DR et al., J Biol Chem 2005 | Medline | |
| S631A | Loop 5-6 | Hayashi K et al., Cardiovasc Res 2002 | Medline | |
| S631A | Loop 5-6 | Gong Q et al., Am J Physiol Heart Circ Physiol 2002 | Medline | |
| S631A | Loop 5-6 | Mullins FM et al., J Gen Physiol 2002 | Medline | |
| S631A | Loop 5-6 | Yang BF et al., Acta Pharmacol Sin 2004 | Medline | |
| S631A | Loop 5-6 | Weerapura M et al., Pflugers Arch 2002 | Medline | |
| S631C | Loop 5-6 | Piper DR et al., Proc Natl Acad Sci U S A 2003 | Medline | |
| S631C | Loop 5-6 | Mitcheson JS et al., J Gen Physiol 2000 | Medline | |
| S631C | Loop 5-6 | Ulens C et al., FEBS Lett 2000 | Medline | |
| S631C | Loop 5-6 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline | |
| S631C | Loop 5-6 | Kamiya K et al., Mol Pharmacol 2001 | Medline | |
| S631C | Loop 5-6 | Ficker E et al., Mol Pharmacol 2001 | Medline | |
| S631C | Loop 5-6 | Sanchez-Chapula JA et al., J Biol Chem 2002 | Medline | |
| S631C | Loop 5-6 | Piper DR et al., J Biol Chem 2005 | Medline | |
| S631C | Loop 5-6 | Hayashi K et al., Cardiovasc Res 2002 | Medline | |
| S631C | Loop 5-6 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline | |
| S631C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| S631E | Loop 5-6 | Ulens C et al., FEBS Lett 2000 | Medline | |
| S631E | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| S631E | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| S631K | Loop 5-6 | Ulens C et al., FEBS Lett 2000 | Medline | |
| S631K | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| S631K | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| S631V | Loop 5-6 | Pardo-Lopez L et al., FEBS Lett 2002 | Medline | |
| S631Y | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| P632C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| N633C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| N633C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| T634C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| E637C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| E637K | Loop 5-6 | Hayashi K et al., Cardiovasc Res 2002 | Medline | |
| K638C | Loop 5-6 | Pardo-Lopez L et al., J Biol Chem 2002 | Medline | |
| K638C | Loop 5-6 | Liu J et al., J Gen Physiol 2002 | Medline | |
| K638E | Loop 5-6 | Moss AJ et al., Circulation 2002 | Medline | |
| S641A | TRANSMEM VI | 643 | Gessner G et al., Mol Pharmacol 2004 | Medline |
| M645V | TRANSMEM VI | 647 | Lupoglazoff JM et al., J Am Coll Cardiol 2004 | Medline |
| I647A | TRANSMEM VI | 649 | Ishii K et al., FEBS Lett 2001 | Medline |
| I647A | TRANSMEM VI | 649 | Ishii K et al., Cardiovasc Res 2003 | Medline |
| I647F | TRANSMEM VI | 649 | Ishii K et al., FEBS Lett 2001 | Medline |
| I647F | TRANSMEM VI | 649 | Ishii K et al., Cardiovasc Res 2003 | Medline |
| I647W | TRANSMEM VI | 649 | Ishii K et al., Cardiovasc Res 2003 | Medline |
| I647Y | TRANSMEM VI | 649 | Ishii K et al., FEBS Lett 2001 | Medline |
| I647Y | TRANSMEM VI | 649 | Ishii K et al., Cardiovasc Res 2003 | Medline |
| G648A | TRANSMEM VI | 650 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline |
| G648A | TRANSMEM VI | 650 | Kamiya K et al., Mol Pharmacol 2001 | Medline |
| G648A | TRANSMEM VI | 650 | Ishii K et al., FEBS Lett 2001 | Medline |
| G648A | TRANSMEM VI | 650 | Ficker E et al., Mol Pharmacol 2001 | Medline |
| G648A | TRANSMEM VI | 650 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline |
| M651F | TRANSMEM VI | 653 | Ishii K et al., FEBS Lett 2001 | Medline |
| M651T | TRANSMEM VI | 653 | Lees-Miller JP et al., Mol Pharmacol 2000 | Medline |
| M651Y | TRANSMEM VI | 653 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline |
| Y652A | TRANSMEM VI | 654 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline |
| Y652A | TRANSMEM VI | 654 | Milnes JT et al., Br J Pharmacol 2003 | Medline |
| Y652A | TRANSMEM VI | 654 | Siebrands CC et al., Anesthesiology 2005 | Medline |
| Y652A | TRANSMEM VI | 654 | Kiesecker C et al., Naunyn Schmiedebergs Arch Pharmacol 2004 | Medline |
| Y652A | TRANSMEM VI | 654 | Thomas D et al., Cardiovasc Res 2004 | Medline |
| Y652A | TRANSMEM VI | 654 | Sanchez-Chapula JA et al., J Biol Chem 2002 | Medline |
| Y652A | TRANSMEM VI | 654 | Ishii K et al., FEBS Lett 2001 | Medline |
| Y652A | TRANSMEM VI | 654 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline |
| Y652A | TRANSMEM VI | 654 | Thomas D et al., Br J Pharmacol 2004 | Medline |
| Y652A | TRANSMEM VI | 654 | Sanchez-Chapula JA et al., Mol Pharmacol 2003 | Medline |
| Y652A | TRANSMEM VI | 654 | Fernandez D et al., J Biol Chem 2004 | Medline |
| Y652E | TRANSMEM VI | 654 | Sanchez-Chapula JA et al., J Biol Chem 2002 | Medline |
| Y652E | TRANSMEM VI | 654 | Fernandez D et al., J Biol Chem 2004 | Medline |
| Y652F | TRANSMEM VI | 654 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline |
| Y652F | TRANSMEM VI | 654 | Ishii K et al., FEBS Lett 2001 | Medline |
| Y652F | TRANSMEM VI | 654 | Sanchez-Chapula JA et al., J Biol Chem 2002 | Medline |
| Y652F | TRANSMEM VI | 654 | Sanchez-Chapula JA et al., Mol Pharmacol 2003 | Medline |
| Y652F | TRANSMEM VI | 654 | Fernandez D et al., J Biol Chem 2004 | Medline |
| Y652I | TRANSMEM VI | 654 | Fernandez D et al., J Biol Chem 2004 | Medline |
| Y652Q | TRANSMEM VI | 654 | Fernandez D et al., J Biol Chem 2004 | Medline |
| Y652T | TRANSMEM VI | 654 | Sanchez-Chapula JA et al., J Biol Chem 2002 | Medline |
| Y652T | TRANSMEM VI | 654 | Fernandez D et al., J Biol Chem 2004 | Medline |
| Y652V | TRANSMEM VI | 654 | Fernandez D et al., J Biol Chem 2004 | Medline |
| Y652W | TRANSMEM VI | 654 | Fernandez D et al., J Biol Chem 2004 | Medline |
| A653T | TRANSMEM VI | 655 | Petersen CI et al., Proc Natl Acad Sci U S A 2004 | Medline |
| A653Y | TRANSMEM VI | 655 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline |
| S654L | TRANSMEM VI | 656 | Lees-Miller JP et al., Mol Pharmacol 2000 | Medline |
| I655F | TRANSMEM VI | 657 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline |
| I655P | TRANSMEM VI | 657 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656A | TRANSMEM VI | 658 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline |
| F656A | TRANSMEM VI | 658 | Milnes JT et al., Br J Pharmacol 2003 | Medline |
| F656A | TRANSMEM VI | 658 | Siebrands CC et al., Anesthesiology 2005 | Medline |
| F656A | TRANSMEM VI | 658 | Kamiya K et al., Mol Pharmacol 2001 | Medline |
| F656A | TRANSMEM VI | 658 | Ishii K et al., FEBS Lett 2001 | Medline |
| F656A | TRANSMEM VI | 658 | Ficker E et al., Mol Pharmacol 2001 | Medline |
| F656A | TRANSMEM VI | 658 | Kiesecker C et al., Naunyn Schmiedebergs Arch Pharmacol 2004 | Medline |
| F656A | TRANSMEM VI | 658 | Thomas D et al., Cardiovasc Res 2004 | Medline |
| F656A | TRANSMEM VI | 658 | Sanchez-Chapula JA et al., J Biol Chem 2002 | Medline |
| F656A | TRANSMEM VI | 658 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline |
| F656A | TRANSMEM VI | 658 | Thomas D et al., Br J Pharmacol 2004 | Medline |
| F656A | TRANSMEM VI | 658 | Sanchez-Chapula JA et al., Mol Pharmacol 2003 | Medline |
| F656A | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656C | TRANSMEM VI | 658 | Kikuchi K et al., Br J Pharmacol 2005 | Medline |
| F656C | TRANSMEM VI | 658 | Ficker E et al., J Biol Chem 2002 | Medline |
| F656C | TRANSMEM VI | 658 | Kikuchi K et al., Br J Pharmacol 2004 | Medline |
| F656E | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656G | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656I | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656L | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656M | TRANSMEM VI | 658 | Lin J et al., Mol Pharmacol 2005 | Medline |
| F656M | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656R | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656S | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656T | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656V | TRANSMEM VI | 658 | Lees-Miller JP et al., Mol Pharmacol 2000 | Medline |
| F656V | TRANSMEM VI | 658 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline |
| F656V | TRANSMEM VI | 658 | Milnes JT et al., Br J Pharmacol 2003 | Medline |
| F656V | TRANSMEM VI | 658 | Lin J et al., Mol Pharmacol 2005 | Medline |
| F656V | TRANSMEM VI | 658 | Ishii K et al., FEBS Lett 2001 | Medline |
| F656V | TRANSMEM VI | 658 | Sanchez-Chapula JA et al., J Biol Chem 2002 | Medline |
| F656V | TRANSMEM VI | 658 | Sanchez-Chapula JA et al., Mol Pharmacol 2003 | Medline |
| F656V | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656W | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| F656Y | TRANSMEM VI | 658 | Fernandez D et al., J Biol Chem 2004 | Medline |
| G657F | TRANSMEM VI | 659 | Chen J et al., Proc Natl Acad Sci U S A 2002 | Medline |
| G657P | TRANSMEM VI | 659 | Fernandez D et al., J Biol Chem 2004 | Medline |
| N658V | TRANSMEM VI | 660 | Lees-Miller JP et al., Mol Pharmacol 2000 | Medline |
| V659A | TRANSMEM VI | 661 | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline |
| V659A | TRANSMEM VI | 661 | Kamiya K et al., Mol Pharmacol 2001 | Medline |
| V659A | TRANSMEM VI | 661 | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline |
| V659C | TRANSMEM VI | 661 | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline |
| I662A | C-term | Mitcheson JS et al., Proc Natl Acad Sci U S A 2000 | Medline | |
| I662A | C-term | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline | |
| I663A | C-term | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline | |
| Q664A | C-term | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline | |
| R665A | C-term | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline | |
| R665D | C-term | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline | |
| R665E | C-term | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline | |
| R665K | C-term | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline | |
| R665Q | C-term | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline | |
| L666A | C-term | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline | |
| Y667A | C-term | Tristani-Firouzi M et al., J Biol Chem 2002 | Medline | |
| Y667X | C-term | Paulussen A et al., Hum Mutat 2000 | Medline | |
| Y667X | C-term | Paulussen A et al., J Biol Chem 2002 | Medline | |
| T704M | C-term | Dworakowska B et al., Acta Biochim Pol 2000 | Medline | |
| S706C | C-term | Kobori A et al., J Cardiovasc Electrophysiol 2004 | Medline | |
| T720C | C-term | Czirjak G et al., J Biol Chem 2004 | Medline | |
| R744X | C-term | Ko YL et al., J Formos Med Assoc 2001 | Medline | |
| R752Q | C-term | Johnson WH Jr et al., Pediatr Res 2003 | Medline | |
| R752W | C-term | Ficker E et al., Am J Physiol Heart Circ Physiol 2000 | Medline | |
| R752W | C-term | Ficker E et al., Circ Res 2003 | Medline | |
| R752W | C-term | Ficker E et al., J Mol Cell Cardiol 2000 | Medline | |
| R752W | C-term | Ficker E et al., J Biol Chem 2002 | Medline | |
| R752W | C-term | Johnson WH Jr et al., Pediatr Res 2003 | Medline | |
| R752W | C-term | Paulussen A et al., J Biol Chem 2002 | Medline | |
| R752W | C-term | Anson BD et al., Am J Physiol Heart Circ Physiol 2004 | Medline | |
| A783K | C-term | Sun XX et al., J Biol Chem 2004 | Medline | |
| R784K | C-term | Sun XX et al., J Biol Chem 2004 | Medline | |
| R784W | C-term | Yang P et al., Circulation 2002 | Medline | |
| E790K | C-term | Sun XX et al., J Biol Chem 2004 | Medline | |
| V794E | C-term | Sun XX et al., J Biol Chem 2004 | Medline | |
| F805C | C-term | Delisle BP et al., J Biol Chem 2003 | Medline | |
| F805C | C-term | Ficker E et al., J Biol Chem 2002 | Medline | |
| F805C | C-term | Moss AJ et al., Circulation 2002 | Medline | |
| G806D | C-term | Cui J et al., J Biol Chem 2001 | Medline | |
| E807K | C-term | Cui J et al., J Biol Chem 2001 | Medline | |
| S818L | C-term | Nakajima T et al., FEBS Lett 2000 | Medline | |
| S818L | C-term | Cui J et al., J Biol Chem 2001 | Medline | |
| S818L | C-term | Hayashi K et al., Cardiovasc Res 2002 | Medline | |
| S818L | C-term | Paulussen A et al., J Biol Chem 2002 | Medline | |
| S818L | C-term | Anson BD et al., Am J Physiol Heart Circ Physiol 2004 | Medline | |
| S818P | C-term | Roti EC et al., J Biol Chem 2002 | Medline | |
| V822M | C-term | Nakajima T et al., FEBS Lett 2000 | Medline | |
| V822M | C-term | Cui J et al., J Biol Chem 2001 | Medline | |
| V822M | C-term | Aydar E et al., J Physiol 2001 | Medline | |
| V822M | C-term | Moss AJ et al., Circulation 2002 | Medline | |
| V822M | C-term | Kupershmidt S et al., J Biol Chem 2002 | Medline | |
| V822M | C-term | Rajamani S et al., Circulation 2002 | Medline | |
| V822M | C-term | Roti EC et al., J Biol Chem 2002 | Medline | |
| V822M | C-term | Paulussen A et al., J Biol Chem 2002 | Medline | |
| V822M | C-term | Anson BD et al., Am J Physiol Heart Circ Physiol 2004 | Medline | |
| R823P | C-term | Roti EC et al., J Biol Chem 2002 | Medline | |
| R823Q | C-term | Cui J et al., J Biol Chem 2001 | Medline | |
| R823W | C-term | Cui J et al., J Biol Chem 2001 | Medline | |
| R823W | C-term | Ficker E et al., J Biol Chem 2002 | Medline | |
| R823W | C-term | Moss AJ et al., Circulation 2002 | Medline | |
| R823W | C-term | Roti EC et al., J Biol Chem 2002 | Medline | |
| R835W | C-term | Lupoglazoff JM et al., J Am Coll Cardiol 2004 | Medline | |
| N861I | C-term | Akhavan A et al., J Biol Chem 2003 | Medline | |
| N861I | C-term | Moss AJ et al., Circulation 2002 | Medline | |
| N861I | C-term | Roti EC et al., J Biol Chem 2002 | Medline | |
| R863X | C-term | Teng S et al., J Mol Med 2004 | Medline | |
| K897T | C-term | Paavonen KJ et al., Cardiovasc Res 2003 | Medline | |
| K897T | C-term | Laitinen P et al., Hum Mutat 2000 | Medline | |
| K897T | C-term | Bezzina CR et al., Cardiovasc Res 2003 | Medline | |
| K897T | C-term | Brugada R et al., Circulation 2004 | Medline | |
| K897T | C-term | Yang P et al., Circulation 2002 | Medline | |
| K897T | C-term | Roti EC et al., J Biol Chem 2002 | Medline | |
| K897T | C-term | Anson BD et al., Am J Physiol Heart Circ Physiol 2004 | Medline | |
| P917L | C-term | Moss AJ et al., Circulation 2002 | Medline | |
| S960N | C-term | Lupoglazoff JM et al., Circulation 2001 | Medline | |
| P967L | C-term | Anson BD et al., Am J Physiol Heart Circ Physiol 2004 | Medline | |
| R1014X | C-term | Kupershmidt S et al., J Biol Chem 2002 | Medline | |
| R1047L | C-term | Larsen LA et al., Clin Chem 2001 | Medline | |
| R1047L | C-term | Anson BD et al., Am J Physiol Heart Circ Physiol 2004 | Medline | |
| Q1068R | C-term | Anson BD et al., Am J Physiol Heart Circ Physiol 2004 | Medline |
cmbi.ru.nl), 17-Aug-2005