No paralogue variants have been mapped to residue 44 for KCNE2.
KCNE2 | FITYMDNW----RQNTTAEQEALQA-KVDA>E<NFY--YVILYLMVMIGMFSFIIVAILVSTV | 72 |
KCNE1 | WQE---T------VQQGGN-MSGLA-RRSP>R<SSDGKLEALYVLMVLGFFGFFTLGIMLSYI | 66 |
KCNE3 | NATLHSNLLCRPGPGLGPD-NQTEERRASL>P<GR-DDNSYMYILFVMFLFAVTVGSLILGYT | 80 |
KCNE4 | KMEPLNST----HPGTAASSSPLES-RAAG>G<GSGNGNEYFYILVVMSFYGIFLIGIMLGYM | 58 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E44K | c.130G>A | Unknown | SIFT: deleterious Polyphen: probably damaging |