Paralogue Annotation for KCNJ2 residue 107

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 107
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region


Paralogue Variants mapped to KCNJ2 residue 107

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNJ1A103VBartter syndromeHigh9 11318951

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.



KCNJ2VDIRWRWMLVIFCLAFVLSWLFFGCVFWLI>A<LLHGDLDAS--------------------K117
KCNJ1LDLKWRYKMTIFITAFLGSWFFFGLLWYAV>A<YIHKDLPEF--HP---------------SA116
KCNJ3VDLKWRWNLFIFILTYTVAWLFMASMWWVI>A<YTRGDLNKA--HV----------------G118
KCNJ4VDTRWRYMLMIFSAAFLVSWLFFGLLFWCI>A<FFHGDLEAS--PGVPAAGGPAAGGGGAAPV109
KCNJ5VDLKWRFNLLVFTMVYTVTWLFFGFIWWLI>A<YIRGDLDHV--GD----------------Q124
KCNJ6VDLKWRFNLLIFVMVYTVTWLFFGMIWWLI>A<YIRGDMDHI--ED----------------P127
KCNJ8VDLKWRHTLVIFTMSFLCSWLLFAIMWWLV>A<FAHGDIYAY--MEKS--G------MEKSGL115
KCNJ9VDLQWRLSLLFFVLAYALTWLFFGAIWWLI>A<YGRGDLEHL--ED----------------T95
KCNJ10IDMQWRYKLLLFSATFAGTWFLFGVVWYLV>A<VAHGDLLEL--DP---------------PA103
KCNJ11VDLKWPHTLLIFTMSFLCSWLLFAMAWWLI>A<FAHGDLAP----S-E------------GTA107
KCNJ12VDIRWRYMLLIFSLAFLASWLLFGIIFWVI>A<VAHGDLEPA--EG----------------R118
KCNJ13MDMRWRWMMLVFSASFVVHWLVFAVLWYVL>A<EMNGDLELDHDAP---------------PE94
KCNJ14VDVRWRWMCLLFSCSFLASWLLFGLAFWLI>A<SLHGDLAAP--P------------------122
KCNJ15IDMKWRYKLTLFAATFVMTWFLFGVIYYAI>A<FIHGDLEPG--EP---------------IS102
KCNJ16VDTKWRHMFVIFSLSYILSWLIFGSVFWLI>A<FHHGDLLND--P------------------106
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNJ2

There are currently no reported variants at residue 107 for KCNJ2.