Paralogue Annotation for KCNJ2 residue 145

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 145
Reference Amino Acid: Y - Tyrosine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNJ2 residue 145

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ5Y152CHyperaldosteronism, type IIIHigh9 24037882

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.



KCNJ2--KEGKACVSEVNSFTAAFLFSIETQTTIG>Y<GFRCVTDECPIAVFMVVFQSIVGCIIDAFI175
KCNJ1-SANHTPCVENINGLTSAFLFSLETQVTIG>Y<GFRCVTEQCATAIFLLIFQSILGVIINSFM174
KCNJ3--GNYTPCVANVYNFPSAFLFFIETEATIG>Y<GYRYITDKCPEGIILFLFQSILGSIVDAFL176
KCNJ4APVAPKPCIMHVNGFLGAFLFSVETQTTIG>Y<GFRCVTEECPLAVIAVVVQSIVGCVIDSFM167
KCNJ5--QEWIPCVENLSGFVSAFLFSIETETTIG>Y<GFRVITEKCPEGIILLLVQAILGSIVNAFM182
KCNJ6--PSWTPCVTNLNGFVSAFLFSIETETTIG>Y<GYRVITDKCPEGIILLLIQSVLGSIVNAFM185
KCNJ8SGLESTVCVTNVRSFTSAFLFSIEVQVTIG>F<GGRMMTEECPLAITVLILQNIVGLIINAVM173
KCNJ9--TAWTPCVNNLNGFVAAFLFSIETETTIG>Y<GHRVITDQCPEGIVLLLLQAILGSMVNAFM153
KCNJ10-PANHTPCVVQVHTLTGAFLFSLESQTTIG>Y<GFRYISEECPLAIVLLIAQLVLTTILEIFI161
KCNJ11GTA--EPCVTSIHSFSSAFLFSIEVQVTIG>F<GGRMVTEECPLAILILIVQNIVGLMINAIM163
KCNJ12--RGRTPCVMQVHGFMAAFLFSIETQTTIG>Y<GLRCVTEECPVAVFMVVAQSIVGCIIDSFM176
KCNJ13-PENHTICVKYITSFTAAFSFSLETQLTIG>Y<GTMFPSGDCPSAIALLAIQMLLGLMLEAFI152
KCNJ14---PPAPCFSHVASFLAAFLFALETQTSIG>Y<GVRSVTEECPAAVAAVVLQCIAGCVLDAFV180
KCNJ15-ISNHTPCIMKVDSLTGAFLFSLESQTTIG>Y<GVRSITEECPHAIFLLVAQLVITTLIEIFI160
KCNJ16---DITPCVDNVHSFTGAFLFSLETQTTIG>Y<GYRCVTEECSVAVLMVILQSILSCIINTFI164
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 145 for KCNJ2.