No paralogue variants have been mapped to residue 116 for KCNE2.
| KCNE2 | -----------EE-----SKATIHE--NIG>A<AGFKMS----------------P | 123 |
| KCNE1 | -----------EN-----HLAIEQP--NTH>L<PETKPS----------------P | 129 |
| KCNE3 | ------------------RVSM-------->-<----------------------I | 103 |
| KCNE4 | LCSMEGDSVSSESSSPDVHLTIQEEGADDE>L<EETSETPLNESSEGSSENIHQNS | 170 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A116V | c.347C>T | Inherited Arrhythmia | LQTS | rs199473367 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | A common polymorphism associated with antibiotic-induced cardiac arrhythmia. Proc Natl Acad Sci U S A. 2000 97(19):10613-8. 10984545 | |||
| Inherited Arrhythmia | LQTS | Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 82(3):182-8. 14760488 | |||
| p.A116T | c.346G>A | Putative Benign | rs150790888 | SIFT: deleterious Polyphen: possibly damaging | |