No paralogue variants have been mapped to residue 44 for KCNE1.
KCNE1 | -----VQQGGN-MSGLA-RRSPRSSDGKLE>A<LYVLMVLGFFGFFTLGIMLSYIRSKKLEHS | 74 |
KCNE2 | ----RQNTTAEQEALQA-KVDAENFY--YV>I<LYLMVMIGMFSFIIVAILVSTVKSKRREHS | 80 |
KCNE3 | LCRPGPGLGPD-NQTEERRASLPGR-DDNS>Y<MYILFVMFLFAVTVGSLILGYTRSRKVDKR | 88 |
KCNE4 | ----HPGTAASSSPLES-RAAGGGSGNGNE>Y<FYILVVMSFYGIFLIGIMLGYMKSKRREKK | 66 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A44T | c.130G>A | Putative Benign | SIFT: Polyphen: |