Paralogue Annotation for KCNJ2 residue 99

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 99
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNJ2 residue 99

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1F95SBartter syndromeHigh9 12911542

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.



KCNJ2LADIFTTCVDIRWRWMLVIFCLAFVLSWLF>F<GCVFWLIALLHGDLDAS-------------116
KCNJ1FVDIWTTVLDLKWRYKMTIFITAFLGSWFF>F<GLLWYAVAYIHKDLPEF--HP---------114
KCNJ3LSDLFTTLVDLKWRWNLFIFILTYTVAWLF>M<ASMWWVIAYTRGDLNKA--HV---------117
KCNJ4MADIFTTCVDTRWRYMLMIFSAAFLVSWLF>F<GLLFWCIAFFHGDLEAS--PGVPAAGGPAA101
KCNJ5LSDLFTTLVDLKWRFNLLVFTMVYTVTWLF>F<GFIWWLIAYIRGDLDHV--GD---------123
KCNJ6LTDIFTTLVDLKWRFNLLIFVMVYTVTWLF>F<GMIWWLIAYIRGDMDHI--ED---------126
KCNJ8LQDIFTTLVDLKWRHTLVIFTMSFLCSWLL>F<AIMWWLVAFAHGDIYAY--MEKS--G----109
KCNJ9LTDLFTTLVDLQWRLSLLFFVLAYALTWLF>F<GAIWWLIAYGRGDLEHL--ED---------94
KCNJ10LKDLWTTFIDMQWRYKLLLFSATFAGTWFL>F<GVVWYLVAVAHGDLLEL--DP---------101
KCNJ11LQDVFTTLVDLKWPHTLLIFTMSFLCSWLL>F<AMAWWLIAFAHGDLAP----S-E-------104
KCNJ12LADMFTTCVDIRWRYMLLIFSLAFLASWLL>F<GIIFWVIAVAHGDLEPA--EG---------117
KCNJ13LRDAWGILMDMRWRWMMLVFSASFVVHWLV>F<AVLWYVLAEMNGDLELDHDAP---------92
KCNJ14LSDLFTTCVDVRWRWMCLLFSCSFLASWLL>F<GLAFWLIASLHGDLAAP--P----------122
KCNJ15LQDLWTTVIDMKWRYKLTLFAATFVMTWFL>F<GVIYYAIAFIHGDLEPG--EP---------100
KCNJ16VVDIFTTLVDTKWRHMFVIFSLSYILSWLI>F<GSVFWLIAFHHGDLLND--P----------106
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 99 for KCNJ2.