No paralogue variants have been mapped to residue 74 for KCNE1.
| KCNE1 | ALYVLMVLGFFGFFTLGIMLSYIRSKKLEH>S<NDPFNVYIESDA-WQEKDKAYVQARVLESY | 103 |
| KCNE2 | ILYLMVMIGMFSFIIVAILVSTVKSKRREH>S<NDPYHQYIVED--WQEKYKSQILNL----- | 103 |
| KCNE3 | YMYILFVMFLFAVTVGSLILGYTRSRKVDK>R<SDPYHVYIKN-------------------- | 98 |
| KCNE4 | YFYILVVMSFYGIFLIGIMLGYMKSKRREK>K<SSLLLLYKDEERLWGEAMKPLPVVSGLRSV | 96 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.S74A | c.220T>G | Putative Benign | rs199473357 | SIFT: deleterious Polyphen: possibly damaging | |
| Reports | Putative Benign | Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants. EMBO J. 1999 18(15):4137-48. 10428953 | |||
| p.S74L | c.221C>T | Inherited Arrhythmia | LQTS | rs74315446 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Mutations in the hminK gene cause long QT syndrome and suppress IKs function. Nat Genet. 1997 17(3):338-40. 9354802 | ||
| Inherited Arrhythmia | LQTS | Compound mutations: a common cause of severe long-QT syndrome. Circulation. 2004 109(15):1834-41. 15051636 | |||
| Inherited Arrhythmia | LQTS | Mechanisms of disease pathogenesis in long QT syndrome type 5. Am J Physiol Cell Physiol. 2010 298(2):C263-73. 19907016 | |||
| p.S74P | c.220T>C | Putative Benign | SIFT: Polyphen: | ||