Paralogue Annotation for KCNJ2 residue 425

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 425
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 425

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ8S422LVentricular fibrillation High4 19120683, 20558321, 22056721, 22562657, 23414114, 23632791

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.



KCNJ2--PPDIDL------HNQASVPLEPRPLRRE>S<EI427
KCNJ1-----------------PNFILSEVNETDD>T<KM391
KCNJ3DLPPKLQKMAGGAARMEGNLPAKLRKMNSD>R<FT501
KCNJ4GSHLDLE-------RMQASLPLDNISYRRE>S<AI445
KCNJ5--------GLGGSR-------------EAR>G<SV419
KCNJ6--------GDVANL-------------ENE>S<KV423
KCNJ8----NSS------LMVPKVQFMTPEGNQNT>S<ES424
KCNJ9--------GCLPPP-------------ESE>S<KV393
KCNJ10-----------------AEKEGSALSVRIS>N<-V379
KCNJ11---------------VPMAKAKPKFSISPD>S<LS390
KCNJ12QARHDFDR------LQAGGGVLEQRPYRRE>S<EI433
KCNJ13------------------NFQISETGLT-->-<-E360
KCNJ14----------------AASPRVLTPTLALT>L<PP436
KCNJ15-----------------RERELRTLLLQQS>N<-V375
KCNJ16--THEYRE------TPYQKALLTLNRISVE>S<QM418
cons                              > <  

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S425Lc.1274C>T Putative BenignSIFT:
Polyphen: