Paralogue Annotation for KCNJ2 residue 422

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 422
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNJ2 residue 422

No paralogue variants have been mapped to residue 422 for KCNJ2.

KCNJ2	-----PPDIDL------HNQASVPLEPRPL>R<RESEI	427
KCNJ1	--------------------PNFILSEVNE>T<DDTKM	391
KCNJ3	SVADLPPKLQKMAGGAARMEGNLPAKLRKM>N<SDRFT	501
KCNJ4	LEFGSHLDLE-------RMQASLPLDNISY>R<RESAI	445
KCNJ5	-----------GLGGSR------------->E<ARGSV	419
KCNJ6	-----------GDVANL------------->E<NESKV	423
KCNJ8	-------NSS------LMVPKVQFMTPEGN>Q<NTSES	424
KCNJ9	-----------GCLPPP------------->E<SESKV	393
KCNJ10	--------------------AEKEGSALSV>R<ISN-V	379
KCNJ11	------------------VPMAKAKPKFSI>S<PDSLS	390
KCNJ12	LSPQARHDFDR------LQAGGGVLEQRPY>R<RESEI	433
KCNJ13	---------------------NFQISETGL>T<----E	360
KCNJ14	EDG----------------AASPRVLTPTL>A<LTLPP	436
KCNJ15	--------------------RERELRTLLL>Q<QSN-V	375
KCNJ16	-----THEYRE------TPYQKALLTLNRI>S<VESQM	418
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R422L	c.1265G>T	Inherited Arrhythmia	LQTS	rs199473390	SIFT: tolerated Polyphen: possibly damaging
Reports		Inherited Arrhythmia	LQTS	Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839
p.R422P	c.1265G>C	Putative Benign			SIFT: Polyphen:
p.R422Q	c.1265G>A	Putative Benign			SIFT: Polyphen: