Paralogue Annotation for KCNJ2 residue 111

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 111
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 111

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ11	G98S	Hyperinsulinism	High	9	23275527

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.

KCNJ2	WRWMLVIFCLAFVLSWLFFGCVFWLIALLH>G<DLDAS--------------------KEGKA	121
KCNJ1	WRYKMTIFITAFLGSWFFFGLLWYAVAYIH>K<DLPEF--HP---------------SANHTP	120
KCNJ3	WRWNLFIFILTYTVAWLFMASMWWVIAYTR>G<DLNKA--HV----------------GNYTP	122
KCNJ4	WRYMLMIFSAAFLVSWLFFGLLFWCIAFFH>G<DLEAS--PGVPAAGGPAAGGGGAAPVAPKP	113
KCNJ5	WRFNLLVFTMVYTVTWLFFGFIWWLIAYIR>G<DLDHV--GD----------------QEWIP	128
KCNJ6	WRFNLLIFVMVYTVTWLFFGMIWWLIAYIR>G<DMDHI--ED----------------PSWTP	131
KCNJ8	WRHTLVIFTMSFLCSWLLFAIMWWLVAFAH>G<DIYAY--MEKS--G------MEKSGLESTV	119
KCNJ9	WRLSLLFFVLAYALTWLFFGAIWWLIAYGR>G<DLEHL--ED----------------TAWTP	99
KCNJ10	WRYKLLLFSATFAGTWFLFGVVWYLVAVAH>G<DLLEL--DP---------------PANHTP	107
KCNJ11	WPHTLLIFTMSFLCSWLLFAMAWWLIAFAH>G<DLAP----S-E------------GTA--EP	109
KCNJ12	WRYMLLIFSLAFLASWLLFGIIFWVIAVAH>G<DLEPA--EG----------------RGRTP	122
KCNJ13	WRWMMLVFSASFVVHWLVFAVLWYVLAEMN>G<DLELDHDAP---------------PENHTI	98
KCNJ14	WRWMCLLFSCSFLASWLLFGLAFWLIASLH>G<DLAAP--P------------------PPAP	126
KCNJ15	WRYKLTLFAATFVMTWFLFGVIYYAIAFIH>G<DLEPG--EP---------------ISNHTP	106
KCNJ16	WRHMFVIFSLSYILSWLIFGSVFWLIAFHH>G<DLLND--P------------------DITP	110
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

There are currently no reported variants at residue 111 for KCNJ2.