Paralogue Annotation for KCNJ2 residue 213

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 213
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 213

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11R201CDiabetes, permanent neonatalHigh9 15115830, 16731837, 23626843, 22768671, 26958039
KCNJ11R201HDiabetes, permanent neonatalHigh9 15115830, 16731837, 23462667, 20220270, 20466780, 20540435, 25308342, 21352428, 26839896, 23434183, 23959658
KCNJ11R201LDiabetes, juvenile-onsetHigh9 15735229, 24130952
KCNJ11R201SDiabetes, neonatalHigh9 20642364, 23626843

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.



KCNJ2MAKPKKRNETLVFSHNAVIAMRDGKLCLMW>R<VGNLRKSHLVEAHVRAQLLKSRITSEGEYI243
KCNJ1ISRPKKRAKTITFSKNAVISKRGGKLCLLI>R<VANLRKSLLIGSHIYGKLLKTTVTPEGETI242
KCNJ3MSQPKKRAETLMFSEHAVISMRDGKLTLMF>R<VGNLRNSHMVSAQIRCKLLKSRQTPEGEFL244
KCNJ4MARPKKRAQTLLFSHHAVISVRDGKLCLMW>R<VGNLRKSHIVEAHVRAQLIKPYMTQEGEYL235
KCNJ5ISQPKKRAETLMFSNNAVISMRDEKLCLMF>R<VGDLRNSHIVEASIRAKLIKSRQTKEGEFI250
KCNJ6ISQPKKRAETLVFSTHAVISMRDGKLCLMF>R<VGDLRNSHIVEASIRAKLIKSKQTSEGEFI253
KCNJ8TAQAHRRAETLIFSRHAVIAVRNGKLCFMF>R<VGDLRKSMIISASVRIQVVKKTTTPEGEVV241
KCNJ9ISQPNKRAATLVFSSHAVVSLRDGRLCLMF>R<VGDLRSSHIVEASIRAKLIRSRQTLEGEFI221
KCNJ10IARPKKRAETIRFSQHAVVASHNGKPCLMI>R<VANMRKSLLIGCQVTGKLLQTHQTKEGENI229
KCNJ11TAQAHRRAETLIFSKHAVIALRHGRLCFML>R<VGDLRKSMIISATIHMQVVRKTTSPEGEVV231
KCNJ12MARPKKRAQTLLFSHNAVVALRDGKLCLMW>R<VGNLRKSHIVEAHVRAQLIKPRVTEEGEYI244
KCNJ13IARPKNRAFSIRFTDTAVVAHMDGKPNLIF>Q<VANTRPSPLTSVRVSAVLYQERENGK----216
KCNJ14MAKPKKRNETLVFSENAVVALRDHRLCLMW>R<VGNLRRSHLVEAHVRAQLLQPRVTPEGEYI248
KCNJ15IARPKKRAETIKFSHCAVITKQNGKLCLVI>Q<VANMRKSLLIQCQLSGKLLQTHVTKEGERI228
KCNJ16MATARKRAQTIRFSYFALIGMRDGKLCLMW>R<IGDFRPNHVVEGTVRAQLLRYTEDSEGRM-231
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 213 for KCNJ2.