Paralogue Annotation for KCNJ2 residue 184

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 184
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNJ2 residue 184

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1S183CBartter syndromeMedium9 19096086
KCNJ11A172VHyperinsulinismHigh9 23275527

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.



KCNJ2CPIAVFMVVFQSIVGCIIDAFIIGAVMAKM>A<KPKKRNETLVFSHNAVIAMRDGKLCLMWRV214
KCNJ1CATAIFLLIFQSILGVIINSFMCGAILAKI>S<RPKKRAKTITFSKNAVISKRGGKLCLLIRV213
KCNJ3CPEGIILFLFQSILGSIVDAFLIGCMFIKM>S<QPKKRAETLMFSEHAVISMRDGKLTLMFRV215
KCNJ4CPLAVIAVVVQSIVGCVIDSFMIGTIMAKM>A<RPKKRAQTLLFSHHAVISVRDGKLCLMWRV206
KCNJ5CPEGIILLLVQAILGSIVNAFMVGCMFVKI>S<QPKKRAETLMFSNNAVISMRDEKLCLMFRV221
KCNJ6CPEGIILLLIQSVLGSIVNAFMVGCMFVKI>S<QPKKRAETLVFSTHAVISMRDGKLCLMFRV224
KCNJ8CPLAITVLILQNIVGLIINAVMLGCIFMKT>A<QAHRRAETLIFSRHAVIAVRNGKLCFMFRV212
KCNJ9CPEGIVLLLLQAILGSMVNAFMVGCMFVKI>S<QPNKRAATLVFSSHAVVSLRDGRLCLMFRV192
KCNJ10CPLAIVLLIAQLVLTTILEIFITGTFLAKI>A<RPKKRAETIRFSQHAVVASHNGKPCLMIRV200
KCNJ11CPLAILILIVQNIVGLMINAIMLGCIFMKT>A<QAHRRAETLIFSKHAVIALRHGRLCFMLRV202
KCNJ12CPVAVFMVVAQSIVGCIIDSFMIGAIMAKM>A<RPKKRAQTLLFSHNAVVALRDGKLCLMWRV215
KCNJ13CPSAIALLAIQMLLGLMLEAFITGAFVAKI>A<RPKNRAFSIRFTDTAVVAHMDGKPNLIFQV191
KCNJ14CPAAVAAVVLQCIAGCVLDAFVVGAVMAKM>A<KPKKRNETLVFSENAVVALRDHRLCLMWRV219
KCNJ15CPHAIFLLVAQLVITTLIEIFITGTFLAKI>A<RPKKRAETIKFSHCAVITKQNGKLCLVIQV199
KCNJ16CSVAVLMVILQSILSCIINTFIIGAALAKM>A<TARKRAQTIRFSYFALIGMRDGKLCLMWRI203
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 184 for KCNJ2.