Paralogue Annotation for KCNJ2 residue 71

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 71
Reference Amino Acid: D - Aspartate
Protein Domain: N-terminus

Paralogue Variants mapped to KCNJ2 residue 71

No paralogue variants have been mapped to residue 71 for KCNJ2.

KCNJ2	CRSRFVKKDGHCNVQFINVGEKGQ--RYLA>D<IFTTCVDIRWRWMLVIFCLAFVLSWLFFGC	101
KCNJ1	QRARLVSKDGRCNIEFGNVEA-QSRFIFFV>D<IWTTVLDLKWRYKMTIFITAFLGSWFFFGL	97
KCNJ3	KRQRFVDKNGRCNVQHGNLGSETS--RYLS>D<LFTTLVDLKWRWNLFIFILTYTVAWLFMAS	100
KCNJ4	RRNRFVKKNGQCNVYFANLSNKSQ--RYMA>D<IFTTCVDTRWRYMLMIFSAAFLVSWLFFGL	75
KCNJ5	PRQRYMEKSGKCNVHHGNVQ-ETY--RYLS>D<LFTTLVDLKWRFNLLVFTMVYTVTWLFFGF	106
KCNJ6	KIQRYVRKDGKCNVHHGNVR-ETY--RYLT>D<IFTTLVDLKWRFNLLIFVMVYTVTWLFFGM	109
KCNJ8	PKARFIAKSGACNLAHKNIR-EQG--RFLQ>D<IFTTLVDLKWRHTLVIFTMSFLCSWLLFAI	89
KCNJ9	GRQRYVEKDGRCNVQQGNVR-ETY--RYLT>D<LFTTLVDLQWRLSLLFFVLAYALTWLFFGA	77
KCNJ10	RRRRVLTKDGRSNVRMEHIADKRF--LYLK>D<LWTTFIDMQWRYKLLLFSATFAGTWFLFGV	84
KCNJ11	RRARFVSKKGNCNVAHKNIR-EQG--RFLQ>D<VFTTLVDLKWPHTLLIFTMSFLCSWLLFAM	88
KCNJ12	CRNRFVKKNGQCNIEFANMDEKSQ--RYLA>D<MFTTCVDIRWRYMLLIFSLAFLASWLLFGI	100
KCNJ13	RYRRMVTKDGHSTLQMDGAQR-GL--AYLR>D<AWGILMDMRWRWMMLVFSASFVVHWLVFAV	73
KCNJ14	RRGRFVKKDGHCNVRFVNLGGQGA--RYLS>D<LFTTCVDVRWRWMCLLFSCSFLASWLLFGL	106
KCNJ15	NRPRVMSKSGHSNVRIDKVDGIYL--LYLQ>D<LWTTVIDMKWRYKLTLFAATFVMTWFLFGV	83
KCNJ16	ARRRLLHKDGSCNVYFKHIFGEWG--SYVV>D<IFTTLVDTKWRHMFVIFSLSYILSWLIFGS	90
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See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D71N	c.211G>A	Inherited Arrhythmia	LQTS	rs199473369	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology. 2003 60(11):1811-6. 12796536
p.D71V	c.212A>T	Inherited Arrhythmia	LQTS	rs104894575	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001 105(4):511-9. 11371347
		Inherited Arrhythmia	LQTS	Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 110(3):381-8. 12163457
		Inherited Arrhythmia	LQTS	Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome. FASEB J. 2012 26(2):513-22. 22002906
		Inherited Arrhythmia	LQTS	Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion. Cardiovasc Res. 2003 59(2):321-7. 12909315
		Inherited Arrhythmia	LQTS	Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J Biol Chem. 2003 278(51):51779-85. 14522976
p.D71Y	c.211G>T	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome. Channels (Austin). 2011 5(6):500-9. 22186697
p.Asp71His	c.211G>C	Unknown			SIFT: Polyphen: