Paralogue Annotation for KCNJ2 residue 293

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 293
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 293

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11E282KHyperinsulinismHigh9 17114887, 19357197

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.



KCNJ2VSPITIVHEIDEDSPLYDLSKQDID-NADF>E<IVVILEGMVEATAMTTQCRSSYLANEILWG323
KCNJ1ISPLTIYHVIDHNSPFFHMAAETLL-QQDF>E<LVVFLDGTVESTSATCQVRTSYVPEEVLWG322
KCNJ3VSPLTICHVIDAKSPFYDLSQRSMQ-TEQF>E<IVVILEGIVETTGMTCQARTSYTEDEVLWG324
KCNJ4VSPIIIVHEIDEDSPLYGMGKEELE-SEDF>E<IVVILEGMVEATAMTTQARSSYLASEILWG315
KCNJ5VSPLIISHEINQKSPFWEMSQAQLH-QEEF>E<VVVILEGMVEATGMTCQARSSYMDTEVLWG330
KCNJ6VSPLIISHEINQQSPFWEISKAQLP-KEEL>E<IVVILEGMVEATGMTCQARSSYITSEILWG333
KCNJ8VAPLIICHVIDKRSPLYDISATDLA-NQDL>E<VIVILEGVVETTGITTQARTSYIAEEIQWG321
KCNJ9VSPLVISHEIDAASPFWEASRRALE-RDDF>E<IVVILEGMVEATGMTCQARSSYLVDEVLWG301
KCNJ10ILPLTFYHVVDETSPLKDLPLRSG--EGDF>E<LVLILSGTVESTSATCQVRTSYLPEEILWG308
KCNJ11VAPLIIYHVIDANSPLYDLAPSDLHHHQDL>E<IIVILEGVVETTGITTQARTSYLADEILWG312
KCNJ12VSPITILHEIDEASPLFGISRQDLE-TDDF>E<IVVILEGMVEATAMTTQARSSYLANEILWG324
KCNJ13IFPLTYYHSITPSSPLATLLQHE-N-PSHF>E<LVVFLSAMQEGTGEICQRRTSYLPSEIMLH296
KCNJ14VSPITIVHEIDSASPLYELGRAELA-RADF>E<LVVILEGMVEATAMTTQCRSSYLPGELLWG328
KCNJ15ILPMTFYHVLDETSPLRDLTPQNLK-EKEF>E<LVVLLNATVESTSAVCQSRTSYIPEEIYWG308
KCNJ16VTPVTIVHEIDHESPLYALDRKAVA-KDNF>E<ILVTFIYTGDSTGTSHQSRSSYVPREILWG307
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 293 for KCNJ2.