Paralogue Annotation for KCNJ2 residue 298

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 298
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 298

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1L297SBartter syndromeHigh9 19096086

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.



KCNJ2IVHEIDEDSPLYDLSKQDID-NADFEIVVI>L<EGMVEATAMTTQCRSSYLANEILWGHRYEP328
KCNJ1IYHVIDHNSPFFHMAAETLL-QQDFELVVF>L<DGTVESTSATCQVRTSYVPEEVLWGYRFAP327
KCNJ3ICHVIDAKSPFYDLSQRSMQ-TEQFEIVVI>L<EGIVETTGMTCQARTSYTEDEVLWGHRFFP329
KCNJ4IVHEIDEDSPLYGMGKEELE-SEDFEIVVI>L<EGMVEATAMTTQARSSYLASEILWGHRFEP320
KCNJ5ISHEINQKSPFWEMSQAQLH-QEEFEVVVI>L<EGMVEATGMTCQARSSYMDTEVLWGHRFTP335
KCNJ6ISHEINQQSPFWEISKAQLP-KEELEIVVI>L<EGMVEATGMTCQARSSYITSEILWGYRFTP338
KCNJ8ICHVIDKRSPLYDISATDLA-NQDLEVIVI>L<EGVVETTGITTQARTSYIAEEIQWGHRFVS326
KCNJ9ISHEIDAASPFWEASRRALE-RDDFEIVVI>L<EGMVEATGMTCQARSSYLVDEVLWGHRFTS306
KCNJ10FYHVVDETSPLKDLPLRSG--EGDFELVLI>L<SGTVESTSATCQVRTSYLPEEILWGYEFTP313
KCNJ11IYHVIDANSPLYDLAPSDLHHHQDLEIIVI>L<EGVVETTGITTQARTSYLADEILWGQRFVP317
KCNJ12ILHEIDEASPLFGISRQDLE-TDDFEIVVI>L<EGMVEATAMTTQARSSYLANEILWGHRFEP329
KCNJ13YYHSITPSSPLATLLQHE-N-PSHFELVVF>L<SAMQEGTGEICQRRTSYLPSEIMLHHCFAS301
KCNJ14IVHEIDSASPLYELGRAELA-RADFELVVI>L<EGMVEATAMTTQCRSSYLPGELLWGHRFEP333
KCNJ15FYHVLDETSPLRDLTPQNLK-EKEFELVVL>L<NATVESTSAVCQSRTSYIPEEIYWGFEFVP313
KCNJ16IVHEIDHESPLYALDRKAVA-KDNFEILVT>F<IYTGDSTGTSHQSRSSYVPREILWGHRFND312
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L298Rc.893T>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. Europace. 2013 23867365