No paralogue variants have been mapped to residue 109 for KCNE1.
| KCNE1 | VYIESDA-WQEKDKAYVQARVLESYRSCYV>V<-------------------------EN--- | 111 |
| KCNE2 | QYIVED--WQEKYKSQILNL---------->-<-------------------------EE--- | 105 |
| KCNE3 | VYIKN------------------------->-<------------------------------ | 98 |
| KCNE4 | LYKDEERLWGEAMKPLPVVSGLRSVQVPLM>L<NMLQESVAPALSCTLCSMEGDSVSSESSSP | 132 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.V109I | c.325G>A | Inherited Arrhythmia | LQTS | rs77442996 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype. J Mol Med (Berl). 2001 79(9):504-9. 11692163 | ||
| Putative Benign | Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677 | ||||
| Inherited Arrhythmia | LQTS | High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279 | |||
| Inherited Arrhythmia | LQTS | Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIPâ‚‚. J Cell Sci. 2014 127(Pt 18):3943-55. doi: 10.1242/jcs.147033. 25037568 | |||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
| Inherited Arrhythmia | LQTS | Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999 | |||