Paralogue Annotation for KCNJ2 residue 204

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 204
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 204

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11R192HDiabetes, type 2, early-onset autosomal dominantHigh9 24018988
KCNJ5R211WSudden unexpected death in infancyHigh9 26350513

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.



KCNJ2FIIGAVMAKMAKPKKRNETLVFSHNAVIAM>R<DGKLCLMWRVGNLRKSHLVEAHVRAQLLKS234
KCNJ1FMCGAILAKISRPKKRAKTITFSKNAVISK>R<GGKLCLLIRVANLRKSLLIGSHIYGKLLKT233
KCNJ3FLIGCMFIKMSQPKKRAETLMFSEHAVISM>R<DGKLTLMFRVGNLRNSHMVSAQIRCKLLKS235
KCNJ4FMIGTIMAKMARPKKRAQTLLFSHHAVISV>R<DGKLCLMWRVGNLRKSHIVEAHVRAQLIKP226
KCNJ5FMVGCMFVKISQPKKRAETLMFSNNAVISM>R<DEKLCLMFRVGDLRNSHIVEASIRAKLIKS241
KCNJ6FMVGCMFVKISQPKKRAETLVFSTHAVISM>R<DGKLCLMFRVGDLRNSHIVEASIRAKLIKS244
KCNJ8VMLGCIFMKTAQAHRRAETLIFSRHAVIAV>R<NGKLCFMFRVGDLRKSMIISASVRIQVVKK232
KCNJ9FMVGCMFVKISQPNKRAATLVFSSHAVVSL>R<DGRLCLMFRVGDLRSSHIVEASIRAKLIRS212
KCNJ10FITGTFLAKIARPKKRAETIRFSQHAVVAS>H<NGKPCLMIRVANMRKSLLIGCQVTGKLLQT220
KCNJ11IMLGCIFMKTAQAHRRAETLIFSKHAVIAL>R<HGRLCFMLRVGDLRKSMIISATIHMQVVRK222
KCNJ12FMIGAIMAKMARPKKRAQTLLFSHNAVVAL>R<DGKLCLMWRVGNLRKSHIVEAHVRAQLIKP235
KCNJ13FITGAFVAKIARPKNRAFSIRFTDTAVVAH>M<DGKPNLIFQVANTRPSPLTSVRVSAVLYQE211
KCNJ14FVVGAVMAKMAKPKKRNETLVFSENAVVAL>R<DHRLCLMWRVGNLRRSHLVEAHVRAQLLQP239
KCNJ15FITGTFLAKIARPKKRAETIKFSHCAVITK>Q<NGKLCLVIQVANMRKSLLIQCQLSGKLLQT219
KCNJ16FIIGAALAKMATARKRAQTIRFSYFALIGM>R<DGKLCLMWRIGDFRPNHVVEGTVRAQLLRY223
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 204 for KCNJ2.