Paralogue Annotation for KCNJ2 residue 191

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 191
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 191

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11E179ADiabetes, permanent neonatalHigh9 16636122

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.



KCNJ2VVFQSIVGCIIDAFIIGAVMAKMAKPKKRN>E<TLVFSHNAVIAMRDGKLCLMWRVGNLRKSH221
KCNJ1LIFQSILGVIINSFMCGAILAKISRPKKRA>K<TITFSKNAVISKRGGKLCLLIRVANLRKSL220
KCNJ3FLFQSILGSIVDAFLIGCMFIKMSQPKKRA>E<TLMFSEHAVISMRDGKLTLMFRVGNLRNSH222
KCNJ4VVVQSIVGCVIDSFMIGTIMAKMARPKKRA>Q<TLLFSHHAVISVRDGKLCLMWRVGNLRKSH213
KCNJ5LLVQAILGSIVNAFMVGCMFVKISQPKKRA>E<TLMFSNNAVISMRDEKLCLMFRVGDLRNSH228
KCNJ6LLIQSVLGSIVNAFMVGCMFVKISQPKKRA>E<TLVFSTHAVISMRDGKLCLMFRVGDLRNSH231
KCNJ8LILQNIVGLIINAVMLGCIFMKTAQAHRRA>E<TLIFSRHAVIAVRNGKLCFMFRVGDLRKSM219
KCNJ9LLLQAILGSMVNAFMVGCMFVKISQPNKRA>A<TLVFSSHAVVSLRDGRLCLMFRVGDLRSSH199
KCNJ10LIAQLVLTTILEIFITGTFLAKIARPKKRA>E<TIRFSQHAVVASHNGKPCLMIRVANMRKSL207
KCNJ11LIVQNIVGLMINAIMLGCIFMKTAQAHRRA>E<TLIFSKHAVIALRHGRLCFMLRVGDLRKSM209
KCNJ12VVAQSIVGCIIDSFMIGAIMAKMARPKKRA>Q<TLLFSHNAVVALRDGKLCLMWRVGNLRKSH222
KCNJ13LAIQMLLGLMLEAFITGAFVAKIARPKNRA>F<SIRFTDTAVVAHMDGKPNLIFQVANTRPSP198
KCNJ14VVLQCIAGCVLDAFVVGAVMAKMAKPKKRN>E<TLVFSENAVVALRDHRLCLMWRVGNLRRSH226
KCNJ15LVAQLVITTLIEIFITGTFLAKIARPKKRA>E<TIKFSHCAVITKQNGKLCLVIQVANMRKSL206
KCNJ16VILQSILSCIINTFIIGAALAKMATARKRA>Q<TIRFSYFALIGMRDGKLCLMWRIGDFRPNH210
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 191 for KCNJ2.