No paralogue variants have been mapped to residue 48 for KCNE2.
KCNE2 | NW----RQNTTAEQEALQA-KVDAENFY-->Y<VILYLMVMIGMFSFIIVAILVSTVKSKRRE | 78 |
KCNE1 | T------VQQGGN-MSGLA-RRSPRSSDGK>L<EALYVLMVLGFFGFFTLGIMLSYIRSKKLE | 72 |
KCNE3 | NLLCRPGPGLGPD-NQTEERRASLPGR-DD>N<SYMYILFVMFLFAVTVGSLILGYTRSRKVD | 86 |
KCNE4 | ST----HPGTAASSSPLES-RAAGGGSGNG>N<EYFYILVVMSFYGIFLIGIMLGYMKSKRRE | 64 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Y48S | c.143A>C | Putative Benign | SIFT: Polyphen: |