Paralogue Annotation for KCNJ2 residue 92

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 92
Reference Amino Acid: F - Phenylalanine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNJ2 residue 92

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ10F75LEpilepsy, ataxia, sensorineural deafness and tubulHigh9 21849804, 23924083
KCNJ10F75CEpilepsy, ataxia, sensorineural deafness and tubulHigh9 24193250

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.



KCNJ2KGQ--RYLADIFTTCVDIRWRWMLVIFCLA>F<VLSWLFFGCVFWLIALLHGDLDAS------116
KCNJ1-QSRFIFFVDIWTTVLDLKWRYKMTIFITA>F<LGSWFFFGLLWYAVAYIHKDLPEF--HP--114
KCNJ3ETS--RYLSDLFTTLVDLKWRWNLFIFILT>Y<TVAWLFMASMWWVIAYTRGDLNKA--HV--117
KCNJ4KSQ--RYMADIFTTCVDTRWRYMLMIFSAA>F<LVSWLFFGLLFWCIAFFHGDLEAS--PGVP94
KCNJ5ETY--RYLSDLFTTLVDLKWRFNLLVFTMV>Y<TVTWLFFGFIWWLIAYIRGDLDHV--GD--123
KCNJ6ETY--RYLTDIFTTLVDLKWRFNLLIFVMV>Y<TVTWLFFGMIWWLIAYIRGDMDHI--ED--126
KCNJ8EQG--RFLQDIFTTLVDLKWRHTLVIFTMS>F<LCSWLLFAIMWWLVAFAHGDIYAY--MEKS108
KCNJ9ETY--RYLTDLFTTLVDLQWRLSLLFFVLA>Y<ALTWLFFGAIWWLIAYGRGDLEHL--ED--94
KCNJ10KRF--LYLKDLWTTFIDMQWRYKLLLFSAT>F<AGTWFLFGVVWYLVAVAHGDLLEL--DP--101
KCNJ11EQG--RFLQDVFTTLVDLKWPHTLLIFTMS>F<LCSWLLFAMAWWLIAFAHGDLAP----S-E104
KCNJ12KSQ--RYLADMFTTCVDIRWRYMLLIFSLA>F<LASWLLFGIIFWVIAVAHGDLEPA--EG--117
KCNJ13-GL--AYLRDAWGILMDMRWRWMMLVFSAS>F<VVHWLVFAVLWYVLAEMNGDLELDHDAP--92
KCNJ14QGA--RYLSDLFTTCVDVRWRWMCLLFSCS>F<LASWLLFGLAFWLIASLHGDLAAP--P---122
KCNJ15IYL--LYLQDLWTTVIDMKWRYKLTLFAAT>F<VMTWFLFGVIYYAIAFIHGDLEPG--EP--100
KCNJ16EWG--SYVVDIFTTLVDTKWRHMFVIFSLS>Y<ILSWLIFGSVFWLIAFHHGDLLND--P---106
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 92 for KCNJ2.