Paralogue Annotation for KCNJ2 residue 85

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 85
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNJ2 residue 85

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ10L68PSeSAME syndromeHigh9 22612257

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.



KCNJ2QFINVGEKGQ--RYLADIFTTCVDIRWRWM>L<VIFCLAFVLSWLFFGCVFWLIALLHGDLDA115
KCNJ1EFGNVEA-QSRFIFFVDIWTTVLDLKWRYK>M<TIFITAFLGSWFFFGLLWYAVAYIHKDLPE111
KCNJ3QHGNLGSETS--RYLSDLFTTLVDLKWRWN>L<FIFILTYTVAWLFMASMWWVIAYTRGDLNK114
KCNJ4YFANLSNKSQ--RYMADIFTTCVDTRWRYM>L<MIFSAAFLVSWLFFGLLFWCIAFFHGDLEA89
KCNJ5HHGNVQ-ETY--RYLSDLFTTLVDLKWRFN>L<LVFTMVYTVTWLFFGFIWWLIAYIRGDLDH120
KCNJ6HHGNVR-ETY--RYLTDIFTTLVDLKWRFN>L<LIFVMVYTVTWLFFGMIWWLIAYIRGDMDH123
KCNJ8AHKNIR-EQG--RFLQDIFTTLVDLKWRHT>L<VIFTMSFLCSWLLFAIMWWLVAFAHGDIYA103
KCNJ9QQGNVR-ETY--RYLTDLFTTLVDLQWRLS>L<LFFVLAYALTWLFFGAIWWLIAYGRGDLEH91
KCNJ10RMEHIADKRF--LYLKDLWTTFIDMQWRYK>L<LLFSATFAGTWFLFGVVWYLVAVAHGDLLE98
KCNJ11AHKNIR-EQG--RFLQDVFTTLVDLKWPHT>L<LIFTMSFLCSWLLFAMAWWLIAFAHGDLAP102
KCNJ12EFANMDEKSQ--RYLADMFTTCVDIRWRYM>L<LIFSLAFLASWLLFGIIFWVIAVAHGDLEP114
KCNJ13QMDGAQR-GL--AYLRDAWGILMDMRWRWM>M<LVFSASFVVHWLVFAVLWYVLAEMNGDLEL87
KCNJ14RFVNLGGQGA--RYLSDLFTTCVDVRWRWM>C<LLFSCSFLASWLLFGLAFWLIASLHGDLAA120
KCNJ15RIDKVDGIYL--LYLQDLWTTVIDMKWRYK>L<TLFAATFVMTWFLFGVIYYAIAFIHGDLEP97
KCNJ16YFKHIFGEWG--SYVVDIFTTLVDTKWRHM>F<VIFSLSYILSWLIFGSVFWLIAFHHGDLLN104
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 85 for KCNJ2.