No paralogue variants have been mapped to residue 420 for KCNJ2.
KCNJ2 | -------PPDIDL------HNQASVPLEPR>P<LRRESEI | 427 |
KCNJ1 | ----------------------PNFILSEV>N<ETDDTKM | 391 |
KCNJ3 | SQSVADLPPKLQKMAGGAARMEGNLPAKLR>K<MNSDRFT | 501 |
KCNJ4 | RMLEFGSHLDLE-------RMQASLPLDNI>S<YRRESAI | 445 |
KCNJ5 | -------------GLGGSR----------->-<-EARGSV | 419 |
KCNJ6 | -------------GDVANL----------->-<-ENESKV | 423 |
KCNJ8 | ---------NSS------LMVPKVQFMTPE>G<NQNTSES | 424 |
KCNJ9 | -------------GCLPPP----------->-<-ESESKV | 393 |
KCNJ10 | ----------------------AEKEGSAL>S<VRISN-V | 379 |
KCNJ11 | --------------------VPMAKAKPKF>S<ISPDSLS | 390 |
KCNJ12 | --LSPQARHDFDR------LQAGGGVLEQR>P<YRRESEI | 433 |
KCNJ13 | -----------------------NFQISET>G<LT----E | 360 |
KCNJ14 | --EDG----------------AASPRVLTP>T<LALTLPP | 436 |
KCNJ15 | ----------------------RERELRTL>L<LQQSN-V | 375 |
KCNJ16 | -------THEYRE------TPYQKALLTLN>R<ISVESQM | 418 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P420L | c.1259C>T | Putative Benign | SIFT: tolerated Polyphen: benign |