No paralogue variants have been mapped to residue 91 for KCNE1.
KCNE1 | MLSYIRSKKLEHSNDPFNVYIESDA-WQEK>D<KAYVQARVLESYRSCYVV------------ | 109 |
KCNE2 | LVSTVKSKRREHSNDPYHQYIVED--WQEK>Y<KSQILNL----------------------- | 103 |
KCNE3 | ILGYTRSRKVDKRSDPYHVYIKN------->-<------------------------------ | 98 |
KCNE4 | MLGYMKSKRREKKSSLLLLYKDEERLWGEA>M<KPLPVVSGLRSVQVPLMLNMLQESVAPALS | 114 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D91E | c.273C>A | Inherited Arrhythmia | LQTS | rs146614850 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Long QT syndrome in South Africa: the results of comprehensive genetic screening. Cardiovasc J Afr. 2013 24(6):231-7. doi: 10.5830/CVJA-2013-032. 24217263 | ||
p.D91N | c.271G>A | Putative Benign | SIFT: Polyphen: |