Paralogue Annotation for KCNJ2 residue 240

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 240
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 240

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11G228ADiabetes, neonatalHigh9 24041679

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.



KCNJ2LMWRVGNLRKSHLVEAHVRAQLLKSRITSE>G<EYIPLDQIDINVGFD--SGIDRIFLVSPIT268
KCNJ1LLIRVANLRKSLLIGSHIYGKLLKTTVTPE>G<ETIILDQININFVVD--AGNENLFFISPLT267
KCNJ3LMFRVGNLRNSHMVSAQIRCKLLKSRQTPE>G<EFLPLDQLELDVGFS--TGADQLFLVSPLT269
KCNJ4LMWRVGNLRKSHIVEAHVRAQLIKPYMTQE>G<EYLPLDQRDLNVGYD--IGLDRIFLVSPII260
KCNJ5LMFRVGDLRNSHIVEASIRAKLIKSRQTKE>G<EFIPLNQTDINVGFD--TGDDRLFLVSPLI275
KCNJ6LMFRVGDLRNSHIVEASIRAKLIKSKQTSE>G<EFIPLNQTDINVGYY--TGDDRLFLVSPLI278
KCNJ8FMFRVGDLRKSMIISASVRIQVVKKTTTPE>G<EVVPIHQLDIPVDNP--IESNNIFLVAPLI266
KCNJ9LMFRVGDLRSSHIVEASIRAKLIRSRQTLE>G<EFIPLHQTDLSVGFD--TGDDRLFLVSPLV246
KCNJ10LMIRVANMRKSLLIGCQVTGKLLQTHQTKE>G<ENIRLNQVNVTFQVD--TASDSPFLILPLT254
KCNJ11FMLRVGDLRKSMIISATIHMQVVRKTTSPE>G<EVVPLHQVDIPMENG--VGGNSIFLVAPLI256
KCNJ12LMWRVGNLRKSHIVEAHVRAQLIKPRVTEE>G<EYIPLDQIDIDVGFD--KGLDRIFLVSPIT269
KCNJ13LIFQVANTRPSPLTSVRVSAVLYQERENGK>-<---L-YQTSVDFHLDGISSDECPFFIFPLT242
KCNJ14LMWRVGNLRRSHLVEAHVRAQLLQPRVTPE>G<EYIPLDHQDVDVGFD--GGTDRIFLVSPIT273
KCNJ15LVIQVANMRKSLLIQCQLSGKLLQTHVTKE>G<ERILLNQATVKFHVD--SSSESPFLILPMT253
KCNJ16LMWRIGDFRPNHVVEGTVRAQLLRYTEDSE>G<RM-TMAFKDLKLV------NDQIILVTPVT252
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 240 for KCNJ2.