Paralogue Annotation for KCNJ2 residue 138

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 138
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 138

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ11	E126K	Hyperinsulinism	High	9	24686051
KCNJ5	E145Q	Hyperaldosteronism, type III	High	9	25322277, 25322277

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	---------KEGKACVSEVNSFTAAFLFSI>E<TQTTIGYGFRCVTDECPIAVFMVVFQSIVG	168
KCNJ1	--------SANHTPCVENINGLTSAFLFSL>E<TQVTIGYGFRCVTEQCATAIFLLIFQSILG	167
KCNJ3	---------GNYTPCVANVYNFPSAFLFFI>E<TEATIGYGYRYITDKCPEGIILFLFQSILG	169
KCNJ4	AAGGGGAAPVAPKPCIMHVNGFLGAFLFSV>E<TQTTIGYGFRCVTEECPLAVIAVVVQSIVG	160
KCNJ5	---------QEWIPCVENLSGFVSAFLFSI>E<TETTIGYGFRVITEKCPEGIILLLVQAILG	175
KCNJ6	---------PSWTPCVTNLNGFVSAFLFSI>E<TETTIGYGYRVITDKCPEGIILLLIQSVLG	178
KCNJ8	----MEKSGLESTVCVTNVRSFTSAFLFSI>E<VQVTIGFGGRMMTEECPLAITVLILQNIVG	166
KCNJ9	---------TAWTPCVNNLNGFVAAFLFSI>E<TETTIGYGHRVITDQCPEGIVLLLLQAILG	146
KCNJ10	--------PANHTPCVVQVHTLTGAFLFSL>E<SQTTIGYGFRYISEECPLAIVLLIAQLVLT	154
KCNJ11	-------GTA--EPCVTSIHSFSSAFLFSI>E<VQVTIGFGGRMVTEECPLAILILIVQNIVG	156
KCNJ12	---------RGRTPCVMQVHGFMAAFLFSI>E<TQTTIGYGLRCVTEECPVAVFMVVAQSIVG	169
KCNJ13	--------PENHTICVKYITSFTAAFSFSL>E<TQLTIGYGTMFPSGDCPSAIALLAIQMLLG	145
KCNJ14	----------PPAPCFSHVASFLAAFLFAL>E<TQTSIGYGVRSVTEECPAAVAAVVLQCIAG	173
KCNJ15	--------ISNHTPCIMKVDSLTGAFLFSL>E<SQTTIGYGVRSITEECPHAIFLLVAQLVIT	153
KCNJ16	----------DITPCVDNVHSFTGAFLFSL>E<TQTTIGYGYRCVTEECSVAVLMVILQSILS	157
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E138K	c.412G>A	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement. Muscle Nerve. 2015 51(2):192-6. doi: 10.1002/mus.24293. 24861851