Paralogue Annotation for KCNJ2 residue 292

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 292
Reference Amino Acid: F - Phenylalanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 292

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11L281LHyperinsulinismMedium9 26740944

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.



KCNJ2LVSPITIVHEIDEDSPLYDLSKQDID-NAD>F<EIVVILEGMVEATAMTTQCRSSYLANEILW322
KCNJ1FISPLTIYHVIDHNSPFFHMAAETLL-QQD>F<ELVVFLDGTVESTSATCQVRTSYVPEEVLW321
KCNJ3LVSPLTICHVIDAKSPFYDLSQRSMQ-TEQ>F<EIVVILEGIVETTGMTCQARTSYTEDEVLW323
KCNJ4LVSPIIIVHEIDEDSPLYGMGKEELE-SED>F<EIVVILEGMVEATAMTTQARSSYLASEILW314
KCNJ5LVSPLIISHEINQKSPFWEMSQAQLH-QEE>F<EVVVILEGMVEATGMTCQARSSYMDTEVLW329
KCNJ6LVSPLIISHEINQQSPFWEISKAQLP-KEE>L<EIVVILEGMVEATGMTCQARSSYITSEILW332
KCNJ8LVAPLIICHVIDKRSPLYDISATDLA-NQD>L<EVIVILEGVVETTGITTQARTSYIAEEIQW320
KCNJ9LVSPLVISHEIDAASPFWEASRRALE-RDD>F<EIVVILEGMVEATGMTCQARSSYLVDEVLW300
KCNJ10LILPLTFYHVVDETSPLKDLPLRSG--EGD>F<ELVLILSGTVESTSATCQVRTSYLPEEILW307
KCNJ11LVAPLIIYHVIDANSPLYDLAPSDLHHHQD>L<EIIVILEGVVETTGITTQARTSYLADEILW311
KCNJ12LVSPITILHEIDEASPLFGISRQDLE-TDD>F<EIVVILEGMVEATAMTTQARSSYLANEILW323
KCNJ13FIFPLTYYHSITPSSPLATLLQHE-N-PSH>F<ELVVFLSAMQEGTGEICQRRTSYLPSEIML295
KCNJ14LVSPITIVHEIDSASPLYELGRAELA-RAD>F<ELVVILEGMVEATAMTTQCRSSYLPGELLW327
KCNJ15LILPMTFYHVLDETSPLRDLTPQNLK-EKE>F<ELVVLLNATVESTSAVCQSRTSYIPEEIYW307
KCNJ16LVTPVTIVHEIDHESPLYALDRKAVA-KDN>F<EILVTFIYTGDSTGTSHQSRSSYVPREILW306
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 292 for KCNJ2.