Paralogue Annotation for KCNJ2 residue 282

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 282
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 282

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11L270VHyperinsulinaemic hypoglycaemiaHigh9 25972930

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNJ2.



KCNJ2FD--SGIDRIFLVSPITIVHEIDEDSPLYD>L<SKQDID-NADFEIVVILEGMVEATAMTTQC311
KCNJ1VD--AGNENLFFISPLTIYHVIDHNSPFFH>M<AAETLL-QQDFELVVFLDGTVESTSATCQV310
KCNJ3FS--TGADQLFLVSPLTICHVIDAKSPFYD>L<SQRSMQ-TEQFEIVVILEGIVETTGMTCQA312
KCNJ4YD--IGLDRIFLVSPIIIVHEIDEDSPLYG>M<GKEELE-SEDFEIVVILEGMVEATAMTTQA303
KCNJ5FD--TGDDRLFLVSPLIISHEINQKSPFWE>M<SQAQLH-QEEFEVVVILEGMVEATGMTCQA318
KCNJ6YY--TGDDRLFLVSPLIISHEINQQSPFWE>I<SKAQLP-KEELEIVVILEGMVEATGMTCQA321
KCNJ8NP--IESNNIFLVAPLIICHVIDKRSPLYD>I<SATDLA-NQDLEVIVILEGVVETTGITTQA309
KCNJ9FD--TGDDRLFLVSPLVISHEIDAASPFWE>A<SRRALE-RDDFEIVVILEGMVEATGMTCQA289
KCNJ10VD--TASDSPFLILPLTFYHVVDETSPLKD>L<PLRSG--EGDFELVLILSGTVESTSATCQV296
KCNJ11NG--VGGNSIFLVAPLIIYHVIDANSPLYD>L<APSDLHHHQDLEIIVILEGVVETTGITTQA300
KCNJ12FD--KGLDRIFLVSPITILHEIDEASPLFG>I<SRQDLE-TDDFEIVVILEGMVEATAMTTQA312
KCNJ13LDGISSDECPFFIFPLTYYHSITPSSPLAT>L<LQHE-N-PSHFELVVFLSAMQEGTGEICQR284
KCNJ14FD--GGTDRIFLVSPITIVHEIDSASPLYE>L<GRAELA-RADFELVVILEGMVEATAMTTQC316
KCNJ15VD--SSSESPFLILPMTFYHVLDETSPLRD>L<TPQNLK-EKEFELVVLLNATVESTSAVCQS296
KCNJ16------NDQIILVTPVTIVHEIDHESPLYA>L<DRKAVA-KDNFEILVTFIYTGDSTGTSHQS295
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L282Wc.845T>G Putative BenignSIFT:
Polyphen: