Paralogue Annotation for KCNJ2 residue 52

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 52
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNJ2 residue 52

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ11	G40D	Hyperinsulinism	High	9	16357843
KCNJ1	G47E	Bartter syndrome, antenatal	High	9	21865213
KCNJ11	G40S	Hyperinsulinism	High	9	24401662

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	TMAVANGF-GNGKSKVHTRQQCRSRFVKKD>G<HCNVQFINVGEKGQ--RYLADIFTTCVDIR	80
KCNJ1	K------W-VVT-R-FFGHSRQRARLVSKD>G<RCNIEFGNVEA-QSRFIFFVDIWTTVLDLK	76
KCNJ3	PQG--PGQ-D-PQQQLV-PKKKRQRFVDKN>G<RCNVQHGNLGSETS--RYLSDLFTTLVDLK	79
KCNJ4	----------NGQAHVP-RRKRRNRFVKKN>G<QCNVYFANLSNKSQ--RYMADIFTTCVDTR	54
KCNJ5	DYV--PIATD-RTRLLAEGKKPRQRYMEKS>G<KCNVHHGNVQ-ETY--RYLSDLFTTLVDLK	85
KCNJ6	DDL--PRHIS-RDR----TKRKIQRYVRKD>G<KCNVHHGNVR-ETY--RYLTDIFTTLVDLK	88
KCNJ8	-------E-NLRKP-RIRDRLPKARFIAKS>G<ACNLAHKNIR-EQG--RFLQDIFTTLVDLK	68
KCNJ9	-----------GQE-EPPRRRGRQRYVEKD>G<RCNVQQGNVR-ETY--RYLTDLFTTLVDLQ	56
KCNJ10	-----------R-P-LMGPGIRRRRVLTKD>G<RSNVRMEHIADKRF--LYLKDLWTTFIDMQ	63
KCNJ11	-------E-DPAKP-RYRARQRRARFVSKK>G<NCNVAHKNIR-EQG--RFLQDVFTTLVDLK	67
KCNJ12	TMSGANGF-GNGK--VHTRRRCRNRFVKKN>G<QCNIEFANMDEKSQ--RYLADMFTTCVDIR	79
KCNJ13	P------L-L---------SQRYRRMVTKD>G<HSTLQMDGAQR-GL--AYLRDAWGILMDMR	52
KCNJ14	RNGWAPAP-VQS----P-VGRRRGRFVKKD>G<HCNVRFVNLGGQGA--RYLSDLFTTCVDVR	85
KCNJ15	-----------T-A-GAGLKANRPRVMSKS>G<HSNVRIDKVDGIYL--LYLQDLWTTVIDMK	62
KCNJ16	------GY-PPEH-IIAEKRRARRRLLHKD>G<SCNVYFKHIFGEWG--SYVVDIFTTLVDTK	69
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See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G52V	c.155G>T	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