Paralogue Annotation for KCNJ2 residue 296

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 296
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 296

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11V285IDiabetes, transient neonatalHigh9 22831748

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.



KCNJ2ITIVHEIDEDSPLYDLSKQDID-NADFEIV>V<ILEGMVEATAMTTQCRSSYLANEILWGHRY326
KCNJ1LTIYHVIDHNSPFFHMAAETLL-QQDFELV>V<FLDGTVESTSATCQVRTSYVPEEVLWGYRF325
KCNJ3LTICHVIDAKSPFYDLSQRSMQ-TEQFEIV>V<ILEGIVETTGMTCQARTSYTEDEVLWGHRF327
KCNJ4IIIVHEIDEDSPLYGMGKEELE-SEDFEIV>V<ILEGMVEATAMTTQARSSYLASEILWGHRF318
KCNJ5LIISHEINQKSPFWEMSQAQLH-QEEFEVV>V<ILEGMVEATGMTCQARSSYMDTEVLWGHRF333
KCNJ6LIISHEINQQSPFWEISKAQLP-KEELEIV>V<ILEGMVEATGMTCQARSSYITSEILWGYRF336
KCNJ8LIICHVIDKRSPLYDISATDLA-NQDLEVI>V<ILEGVVETTGITTQARTSYIAEEIQWGHRF324
KCNJ9LVISHEIDAASPFWEASRRALE-RDDFEIV>V<ILEGMVEATGMTCQARSSYLVDEVLWGHRF304
KCNJ10LTFYHVVDETSPLKDLPLRSG--EGDFELV>L<ILSGTVESTSATCQVRTSYLPEEILWGYEF311
KCNJ11LIIYHVIDANSPLYDLAPSDLHHHQDLEII>V<ILEGVVETTGITTQARTSYLADEILWGQRF315
KCNJ12ITILHEIDEASPLFGISRQDLE-TDDFEIV>V<ILEGMVEATAMTTQARSSYLANEILWGHRF327
KCNJ13LTYYHSITPSSPLATLLQHE-N-PSHFELV>V<FLSAMQEGTGEICQRRTSYLPSEIMLHHCF299
KCNJ14ITIVHEIDSASPLYELGRAELA-RADFELV>V<ILEGMVEATAMTTQCRSSYLPGELLWGHRF331
KCNJ15MTFYHVLDETSPLRDLTPQNLK-EKEFELV>V<LLNATVESTSAVCQSRTSYIPEEIYWGFEF311
KCNJ16VTIVHEIDHESPLYALDRKAVA-KDNFEIL>V<TFIYTGDSTGTSHQSRSSYVPREILWGHRF310
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 296 for KCNJ2.