Paralogue Annotation for KCNJ2 residue 266

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 266
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 266

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11P254LHyperinsulinismHigh9 15579781

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.



KCNJ2SEGEYIPLDQIDINVGFD--SGIDRIFLVS>P<ITIVHEIDEDSPLYDLSKQDID-NADFEIV295
KCNJ1PEGETIILDQININFVVD--AGNENLFFIS>P<LTIYHVIDHNSPFFHMAAETLL-QQDFELV294
KCNJ3PEGEFLPLDQLELDVGFS--TGADQLFLVS>P<LTICHVIDAKSPFYDLSQRSMQ-TEQFEIV296
KCNJ4QEGEYLPLDQRDLNVGYD--IGLDRIFLVS>P<IIIVHEIDEDSPLYGMGKEELE-SEDFEIV287
KCNJ5KEGEFIPLNQTDINVGFD--TGDDRLFLVS>P<LIISHEINQKSPFWEMSQAQLH-QEEFEVV302
KCNJ6SEGEFIPLNQTDINVGYY--TGDDRLFLVS>P<LIISHEINQQSPFWEISKAQLP-KEELEIV305
KCNJ8PEGEVVPIHQLDIPVDNP--IESNNIFLVA>P<LIICHVIDKRSPLYDISATDLA-NQDLEVI293
KCNJ9LEGEFIPLHQTDLSVGFD--TGDDRLFLVS>P<LVISHEIDAASPFWEASRRALE-RDDFEIV273
KCNJ10KEGENIRLNQVNVTFQVD--TASDSPFLIL>P<LTFYHVVDETSPLKDLPLRSG--EGDFELV280
KCNJ11PEGEVVPLHQVDIPMENG--VGGNSIFLVA>P<LIIYHVIDANSPLYDLAPSDLHHHQDLEII284
KCNJ12EEGEYIPLDQIDIDVGFD--KGLDRIFLVS>P<ITILHEIDEASPLFGISRQDLE-TDDFEIV296
KCNJ13GK----L-YQTSVDFHLDGISSDECPFFIF>P<LTYYHSITPSSPLATLLQHE-N-PSHFELV268
KCNJ14PEGEYIPLDHQDVDVGFD--GGTDRIFLVS>P<ITIVHEIDSASPLYELGRAELA-RADFELV300
KCNJ15KEGERILLNQATVKFHVD--SSSESPFLIL>P<MTFYHVLDETSPLRDLTPQNLK-EKEFELV280
KCNJ16SEGRM-TMAFKDLKLV------NDQIILVT>P<VTIVHEIDHESPLYALDRKAVA-KDNFEIL279
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 266 for KCNJ2.