Paralogue Annotation for KCNJ2 residue 304

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 304
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 304

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11T293NDEND syndrome, intermediateMedium9 20049716

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.



KCNJ2EDSPLYDLSKQDID-NADFEIVVILEGMVE>A<TAMTTQCRSSYLANEILWGHRYEPVLFEE-333
KCNJ1HNSPFFHMAAETLL-QQDFELVVFLDGTVE>S<TSATCQVRTSYVPEEVLWGYRFAPIVSKTK333
KCNJ3AKSPFYDLSQRSMQ-TEQFEIVVILEGIVE>T<TGMTCQARTSYTEDEVLWGHRFFPVISLE-334
KCNJ4EDSPLYGMGKEELE-SEDFEIVVILEGMVE>A<TAMTTQARSSYLASEILWGHRFEPVVFEE-325
KCNJ5QKSPFWEMSQAQLH-QEEFEVVVILEGMVE>A<TGMTCQARSSYMDTEVLWGHRFTPVLTLE-340
KCNJ6QQSPFWEISKAQLP-KEELEIVVILEGMVE>A<TGMTCQARSSYITSEILWGYRFTPVLTLE-343
KCNJ8KRSPLYDISATDLA-NQDLEVIVILEGVVE>T<TGITTQARTSYIAEEIQWGHRFVSIVTEE-331
KCNJ9AASPFWEASRRALE-RDDFEIVVILEGMVE>A<TGMTCQARSSYLVDEVLWGHRFTSVLTLE-311
KCNJ10ETSPLKDLPLRSG--EGDFELVLILSGTVE>S<TSATCQVRTSYLPEEILWGYEFTPAISLSA319
KCNJ11ANSPLYDLAPSDLHHHQDLEIIVILEGVVE>T<TGITTQARTSYLADEILWGQRFVPIVAEE-322
KCNJ12EASPLFGISRQDLE-TDDFEIVVILEGMVE>A<TAMTTQARSSYLANEILWGHRFEPVLFEE-334
KCNJ13PSSPLATLLQHE-N-PSHFELVVFLSAMQE>G<TGEICQRRTSYLPSEIMLHHCFASLLTRGS307
KCNJ14SASPLYELGRAELA-RADFELVVILEGMVE>A<TAMTTQCRSSYLPGELLWGHRFEPVLFQR-338
KCNJ15ETSPLRDLTPQNLK-EKEFELVVLLNATVE>S<TSAVCQSRTSYIPEEIYWGFEFVPVVSLSK319
KCNJ16HESPLYALDRKAVA-KDNFEILVTFIYTGD>S<TGTSHQSRSSYVPREILWGHRFNDVLEVK-317
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 304 for KCNJ2.