Paralogue Annotation for KCNJ2 residue 81

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 81
Reference Amino Acid: W - Tryptophan
Protein Domain: N-terminus


Paralogue Variants mapped to KCNJ2 residue 81

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ11W68RDiabetes, neonatalHigh9 21540348
KCNJ11W68CDiabetesHigh9 25306193
KCNJ11W68GDiabetes, neonatalHigh9 26509030, 26509030
KCNJ11W68LDiabetes, neonatalHigh9 26509030

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.



KCNJ2HCNVQFINVGEKGQ--RYLADIFTTCVDIR>W<RWMLVIFCLAFVLSWLFFGCVFWLIALLHG111
KCNJ1RCNIEFGNVEA-QSRFIFFVDIWTTVLDLK>W<RYKMTIFITAFLGSWFFFGLLWYAVAYIHK107
KCNJ3RCNVQHGNLGSETS--RYLSDLFTTLVDLK>W<RWNLFIFILTYTVAWLFMASMWWVIAYTRG110
KCNJ4QCNVYFANLSNKSQ--RYMADIFTTCVDTR>W<RYMLMIFSAAFLVSWLFFGLLFWCIAFFHG85
KCNJ5KCNVHHGNVQ-ETY--RYLSDLFTTLVDLK>W<RFNLLVFTMVYTVTWLFFGFIWWLIAYIRG116
KCNJ6KCNVHHGNVR-ETY--RYLTDIFTTLVDLK>W<RFNLLIFVMVYTVTWLFFGMIWWLIAYIRG119
KCNJ8ACNLAHKNIR-EQG--RFLQDIFTTLVDLK>W<RHTLVIFTMSFLCSWLLFAIMWWLVAFAHG99
KCNJ9RCNVQQGNVR-ETY--RYLTDLFTTLVDLQ>W<RLSLLFFVLAYALTWLFFGAIWWLIAYGRG87
KCNJ10RSNVRMEHIADKRF--LYLKDLWTTFIDMQ>W<RYKLLLFSATFAGTWFLFGVVWYLVAVAHG94
KCNJ11NCNVAHKNIR-EQG--RFLQDVFTTLVDLK>W<PHTLLIFTMSFLCSWLLFAMAWWLIAFAHG98
KCNJ12QCNIEFANMDEKSQ--RYLADMFTTCVDIR>W<RYMLLIFSLAFLASWLLFGIIFWVIAVAHG110
KCNJ13HSTLQMDGAQR-GL--AYLRDAWGILMDMR>W<RWMMLVFSASFVVHWLVFAVLWYVLAEMNG83
KCNJ14HCNVRFVNLGGQGA--RYLSDLFTTCVDVR>W<RWMCLLFSCSFLASWLLFGLAFWLIASLHG116
KCNJ15HSNVRIDKVDGIYL--LYLQDLWTTVIDMK>W<RYKLTLFAATFVMTWFLFGVIYYAIAFIHG93
KCNJ16SCNVYFKHIFGEWG--SYVVDIFTTLVDTK>W<RHMFVIFSLSYILSWLIFGSVFWLIAFHHG100
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 81 for KCNJ2.