Paralogue Annotation for KCNJ2 residue 271

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 271
Reference Amino Acid: H - Histidine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 271

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11H259RHyperinsulinismHigh9 15998776
KCNJ11H259QHyperinsulinismHigh9 20685672

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.



KCNJ2IPLDQIDINVGFD--SGIDRIFLVSPITIV>H<EIDEDSPLYDLSKQDID-NADFEIVVILEG300
KCNJ1IILDQININFVVD--AGNENLFFISPLTIY>H<VIDHNSPFFHMAAETLL-QQDFELVVFLDG299
KCNJ3LPLDQLELDVGFS--TGADQLFLVSPLTIC>H<VIDAKSPFYDLSQRSMQ-TEQFEIVVILEG301
KCNJ4LPLDQRDLNVGYD--IGLDRIFLVSPIIIV>H<EIDEDSPLYGMGKEELE-SEDFEIVVILEG292
KCNJ5IPLNQTDINVGFD--TGDDRLFLVSPLIIS>H<EINQKSPFWEMSQAQLH-QEEFEVVVILEG307
KCNJ6IPLNQTDINVGYY--TGDDRLFLVSPLIIS>H<EINQQSPFWEISKAQLP-KEELEIVVILEG310
KCNJ8VPIHQLDIPVDNP--IESNNIFLVAPLIIC>H<VIDKRSPLYDISATDLA-NQDLEVIVILEG298
KCNJ9IPLHQTDLSVGFD--TGDDRLFLVSPLVIS>H<EIDAASPFWEASRRALE-RDDFEIVVILEG278
KCNJ10IRLNQVNVTFQVD--TASDSPFLILPLTFY>H<VVDETSPLKDLPLRSG--EGDFELVLILSG285
KCNJ11VPLHQVDIPMENG--VGGNSIFLVAPLIIY>H<VIDANSPLYDLAPSDLHHHQDLEIIVILEG289
KCNJ12IPLDQIDIDVGFD--KGLDRIFLVSPITIL>H<EIDEASPLFGISRQDLE-TDDFEIVVILEG301
KCNJ13-L-YQTSVDFHLDGISSDECPFFIFPLTYY>H<SITPSSPLATLLQHE-N-PSHFELVVFLSA273
KCNJ14IPLDHQDVDVGFD--GGTDRIFLVSPITIV>H<EIDSASPLYELGRAELA-RADFELVVILEG305
KCNJ15ILLNQATVKFHVD--SSSESPFLILPMTFY>H<VLDETSPLRDLTPQNLK-EKEFELVVLLNA285
KCNJ16-TMAFKDLKLV------NDQIILVTPVTIV>H<EIDHESPLYALDRKAVA-KDNFEILVTFIY284
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 271 for KCNJ2.