Paralogue Annotation for KCNJ2 residue 264

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 264
Reference Amino Acid: V - Valine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 264

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11V252ADiabetes, neonatalHigh9 17021801, 22815030
KCNJ11V252MDiabetes, neonatalHigh9 20642364
KCNJ11V252LDiabetes, neonatalHigh9 21056492
KCNJ11V252GDiabetes, neonatalHigh9 20642364

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.



KCNJ2ITSEGEYIPLDQIDINVGFD--SGIDRIFL>V<SPITIVHEIDEDSPLYDLSKQDID-NADFE293
KCNJ1VTPEGETIILDQININFVVD--AGNENLFF>I<SPLTIYHVIDHNSPFFHMAAETLL-QQDFE292
KCNJ3QTPEGEFLPLDQLELDVGFS--TGADQLFL>V<SPLTICHVIDAKSPFYDLSQRSMQ-TEQFE294
KCNJ4MTQEGEYLPLDQRDLNVGYD--IGLDRIFL>V<SPIIIVHEIDEDSPLYGMGKEELE-SEDFE285
KCNJ5QTKEGEFIPLNQTDINVGFD--TGDDRLFL>V<SPLIISHEINQKSPFWEMSQAQLH-QEEFE300
KCNJ6QTSEGEFIPLNQTDINVGYY--TGDDRLFL>V<SPLIISHEINQQSPFWEISKAQLP-KEELE303
KCNJ8TTPEGEVVPIHQLDIPVDNP--IESNNIFL>V<APLIICHVIDKRSPLYDISATDLA-NQDLE291
KCNJ9QTLEGEFIPLHQTDLSVGFD--TGDDRLFL>V<SPLVISHEIDAASPFWEASRRALE-RDDFE271
KCNJ10QTKEGENIRLNQVNVTFQVD--TASDSPFL>I<LPLTFYHVVDETSPLKDLPLRSG--EGDFE278
KCNJ11TSPEGEVVPLHQVDIPMENG--VGGNSIFL>V<APLIIYHVIDANSPLYDLAPSDLHHHQDLE282
KCNJ12VTEEGEYIPLDQIDIDVGFD--KGLDRIFL>V<SPITILHEIDEASPLFGISRQDLE-TDDFE294
KCNJ13ENGK----L-YQTSVDFHLDGISSDECPFF>I<FPLTYYHSITPSSPLATLLQHE-N-PSHFE266
KCNJ14VTPEGEYIPLDHQDVDVGFD--GGTDRIFL>V<SPITIVHEIDSASPLYELGRAELA-RADFE298
KCNJ15VTKEGERILLNQATVKFHVD--SSSESPFL>I<LPMTFYHVLDETSPLRDLTPQNLK-EKEFE278
KCNJ16EDSEGRM-TMAFKDLKLV------NDQIIL>V<TPVTIVHEIDHESPLYALDRKAVA-KDNFE277
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 264 for KCNJ2.