No paralogue variants have been mapped to residue 283 for KCNJ2.
KCNJ2 | D--SGIDRIFLVSPITIVHEIDEDSPLYDL>S<KQDID-NADFEIVVILEGMVEATAMTTQCR | 312 |
KCNJ1 | D--AGNENLFFISPLTIYHVIDHNSPFFHM>A<AETLL-QQDFELVVFLDGTVESTSATCQVR | 311 |
KCNJ3 | S--TGADQLFLVSPLTICHVIDAKSPFYDL>S<QRSMQ-TEQFEIVVILEGIVETTGMTCQAR | 313 |
KCNJ4 | D--IGLDRIFLVSPIIIVHEIDEDSPLYGM>G<KEELE-SEDFEIVVILEGMVEATAMTTQAR | 304 |
KCNJ5 | D--TGDDRLFLVSPLIISHEINQKSPFWEM>S<QAQLH-QEEFEVVVILEGMVEATGMTCQAR | 319 |
KCNJ6 | Y--TGDDRLFLVSPLIISHEINQQSPFWEI>S<KAQLP-KEELEIVVILEGMVEATGMTCQAR | 322 |
KCNJ8 | P--IESNNIFLVAPLIICHVIDKRSPLYDI>S<ATDLA-NQDLEVIVILEGVVETTGITTQAR | 310 |
KCNJ9 | D--TGDDRLFLVSPLVISHEIDAASPFWEA>S<RRALE-RDDFEIVVILEGMVEATGMTCQAR | 290 |
KCNJ10 | D--TASDSPFLILPLTFYHVVDETSPLKDL>P<LRSG--EGDFELVLILSGTVESTSATCQVR | 297 |
KCNJ11 | G--VGGNSIFLVAPLIIYHVIDANSPLYDL>A<PSDLHHHQDLEIIVILEGVVETTGITTQAR | 301 |
KCNJ12 | D--KGLDRIFLVSPITILHEIDEASPLFGI>S<RQDLE-TDDFEIVVILEGMVEATAMTTQAR | 313 |
KCNJ13 | DGISSDECPFFIFPLTYYHSITPSSPLATL>L<QHE-N-PSHFELVVFLSAMQEGTGEICQRR | 285 |
KCNJ14 | D--GGTDRIFLVSPITIVHEIDSASPLYEL>G<RAELA-RADFELVVILEGMVEATAMTTQCR | 317 |
KCNJ15 | D--SSSESPFLILPMTFYHVLDETSPLRDL>T<PQNLK-EKEFELVVLLNATVESTSAVCQSR | 297 |
KCNJ16 | -----NDQIILVTPVTIVHEIDHESPLYAL>D<RKAVA-KDNFEILVTFIYTGDSTGTSHQSR | 296 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S283N | c.848G>A | Putative Benign | SIFT: Polyphen: |