Paralogue Annotation for KCNJ2 residue 247

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 247
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 247

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11Q235EHyperinsulinismHigh9 25008049

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.



KCNJ2LRKSHLVEAHVRAQLLKSRITSEGEYIPLD>Q<IDINVGFD--SGIDRIFLVSPITIVHEIDE275
KCNJ1LRKSLLIGSHIYGKLLKTTVTPEGETIILD>Q<ININFVVD--AGNENLFFISPLTIYHVIDH274
KCNJ3LRNSHMVSAQIRCKLLKSRQTPEGEFLPLD>Q<LELDVGFS--TGADQLFLVSPLTICHVIDA276
KCNJ4LRKSHIVEAHVRAQLIKPYMTQEGEYLPLD>Q<RDLNVGYD--IGLDRIFLVSPIIIVHEIDE267
KCNJ5LRNSHIVEASIRAKLIKSRQTKEGEFIPLN>Q<TDINVGFD--TGDDRLFLVSPLIISHEINQ282
KCNJ6LRNSHIVEASIRAKLIKSKQTSEGEFIPLN>Q<TDINVGYY--TGDDRLFLVSPLIISHEINQ285
KCNJ8LRKSMIISASVRIQVVKKTTTPEGEVVPIH>Q<LDIPVDNP--IESNNIFLVAPLIICHVIDK273
KCNJ9LRSSHIVEASIRAKLIRSRQTLEGEFIPLH>Q<TDLSVGFD--TGDDRLFLVSPLVISHEIDA253
KCNJ10MRKSLLIGCQVTGKLLQTHQTKEGENIRLN>Q<VNVTFQVD--TASDSPFLILPLTFYHVVDE261
KCNJ11LRKSMIISATIHMQVVRKTTSPEGEVVPLH>Q<VDIPMENG--VGGNSIFLVAPLIIYHVIDA263
KCNJ12LRKSHIVEAHVRAQLIKPRVTEEGEYIPLD>Q<IDIDVGFD--KGLDRIFLVSPITILHEIDE276
KCNJ13TRPSPLTSVRVSAVLYQERENGK----L-Y>Q<TSVDFHLDGISSDECPFFIFPLTYYHSITP249
KCNJ14LRRSHLVEAHVRAQLLQPRVTPEGEYIPLD>H<QDVDVGFD--GGTDRIFLVSPITIVHEIDS280
KCNJ15MRKSLLIQCQLSGKLLQTHVTKEGERILLN>Q<ATVKFHVD--SSSESPFLILPMTFYHVLDE260
KCNJ16FRPNHVVEGTVRAQLLRYTEDSEGRM-TMA>F<KDLKLV------NDQIILVTPVTIVHEIDH259
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 247 for KCNJ2.