Paralogue Annotation for KCNJ2 residue 245

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 245
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 245

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11L233FDiabetes, neonatalHigh8 21210267

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.



KCNJ2GNLRKSHLVEAHVRAQLLKSRITSEGEYIP>L<DQIDINVGFD--SGIDRIFLVSPITIVHEI273
KCNJ1ANLRKSLLIGSHIYGKLLKTTVTPEGETII>L<DQININFVVD--AGNENLFFISPLTIYHVI272
KCNJ3GNLRNSHMVSAQIRCKLLKSRQTPEGEFLP>L<DQLELDVGFS--TGADQLFLVSPLTICHVI274
KCNJ4GNLRKSHIVEAHVRAQLIKPYMTQEGEYLP>L<DQRDLNVGYD--IGLDRIFLVSPIIIVHEI265
KCNJ5GDLRNSHIVEASIRAKLIKSRQTKEGEFIP>L<NQTDINVGFD--TGDDRLFLVSPLIISHEI280
KCNJ6GDLRNSHIVEASIRAKLIKSKQTSEGEFIP>L<NQTDINVGYY--TGDDRLFLVSPLIISHEI283
KCNJ8GDLRKSMIISASVRIQVVKKTTTPEGEVVP>I<HQLDIPVDNP--IESNNIFLVAPLIICHVI271
KCNJ9GDLRSSHIVEASIRAKLIRSRQTLEGEFIP>L<HQTDLSVGFD--TGDDRLFLVSPLVISHEI251
KCNJ10ANMRKSLLIGCQVTGKLLQTHQTKEGENIR>L<NQVNVTFQVD--TASDSPFLILPLTFYHVV259
KCNJ11GDLRKSMIISATIHMQVVRKTTSPEGEVVP>L<HQVDIPMENG--VGGNSIFLVAPLIIYHVI261
KCNJ12GNLRKSHIVEAHVRAQLIKPRVTEEGEYIP>L<DQIDIDVGFD--KGLDRIFLVSPITILHEI274
KCNJ13ANTRPSPLTSVRVSAVLYQERENGK----L>-<YQTSVDFHLDGISSDECPFFIFPLTYYHSI247
KCNJ14GNLRRSHLVEAHVRAQLLQPRVTPEGEYIP>L<DHQDVDVGFD--GGTDRIFLVSPITIVHEI278
KCNJ15ANMRKSLLIQCQLSGKLLQTHVTKEGERIL>L<NQATVKFHVD--SSSESPFLILPMTFYHVL258
KCNJ16GDFRPNHVVEGTVRAQLLRYTEDSEGRM-T>M<AFKDLKLV------NDQIILVTPVTIVHEI257
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 245 for KCNJ2.