No paralogue variants have been mapped to residue 423 for KCNJ2.
KCNJ2 | ----PPDIDL------HNQASVPLEPRPLR>R<ESEI | 427 |
KCNJ1 | -------------------PNFILSEVNET>D<DTKM | 391 |
KCNJ3 | VADLPPKLQKMAGGAARMEGNLPAKLRKMN>S<DRFT | 501 |
KCNJ4 | EFGSHLDLE-------RMQASLPLDNISYR>R<ESAI | 445 |
KCNJ5 | ----------GLGGSR-------------E>A<RGSV | 419 |
KCNJ6 | ----------GDVANL-------------E>N<ESKV | 423 |
KCNJ8 | ------NSS------LMVPKVQFMTPEGNQ>N<TSES | 424 |
KCNJ9 | ----------GCLPPP-------------E>S<ESKV | 393 |
KCNJ10 | -------------------AEKEGSALSVR>I<SN-V | 379 |
KCNJ11 | -----------------VPMAKAKPKFSIS>P<DSLS | 390 |
KCNJ12 | SPQARHDFDR------LQAGGGVLEQRPYR>R<ESEI | 433 |
KCNJ13 | --------------------NFQISETGLT>-<---E | 360 |
KCNJ14 | DG----------------AASPRVLTPTLA>L<TLPP | 436 |
KCNJ15 | -------------------RERELRTLLLQ>Q<SN-V | 375 |
KCNJ16 | ----THEYRE------TPYQKALLTLNRIS>V<ESQM | 418 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R423Q | c.1268G>A | Putative Benign | SIFT: Polyphen: |