Paralogue Annotation for KCNJ2 residue 382

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 382
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNJ2 residue 382

No paralogue variants have been mapped to residue 382 for KCNJ2.

KCNJ2	---KYILSNA-----N-SFCYENE----VA>L<TSKEEDDSENGVPE------STS-----TD	401
KCNJ1	VR---------------------------A>R<MK--RG-YDN--------------------	375
KCNJ3	LMSSPLIAPA-ITNSKERHNSVEC----LD>G<LDDITTKLPSKLQK------ITG-----RE	410
KCNJ4	---KITVLPAPPPPPS-AFCYENE----LA>L<MSQEEEEMEEEAAAAAAVAAGLGLEAGSKE	409
KCNJ5	REGRLLQYLP-SPPLLGGCAEAGL----DA>E<A-E---------------------------	399
KCNJ6	SRAELPLSWS-VSSKLNQHAELET----EE>E<EKN---------------------------	403
KCNJ8	SILIQTLQKSELS-H------QNS----LR>K<RNSMRRNNSMRRNN------SIR-----RN	401
KCNJ9	ARLDAHLYWS-IPSRLDEKVEEEG----AG>E<GAG---------------------------	371
KCNJ10	LK--------------------------LE>E<SL--R---EQ--------------------	364
KCNJ11	SLLEALTLAS----A------RGP----LR>K<RS----------------------------	372
KCNJ12	---KFLLPSA-----N-SFCYENE----LA>F<LSRDEEDEADGDQD------GRS-----RD	402
KCNJ13	RT---------------------------D>L<DIHINGQSID--------------------	349
KCNJ14	EQASHSLKSSFPGSLT-AFCYENE----LA>L<SCCQEEDEDDETEE------GNG-----VE	415
KCNJ15	QQ--------------------------LE>E<KY--RQ-EDQ--------------------	360
KCNJ16	---DQQLHIEKAPPVR-ESCTSDTKARRRS>F<SAVAIVSSCENP-E------ETT-----TS	392
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See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L382L	c.1146C>T	Conflict			SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Andersen-Tawil syndrome associated with aborted sudden cardiac death: atrial pacing was effective for ventricular arrhythmias. Am J Med Sci. 2012 344(3):248-50. doi: 10.1097/MAJ.0b013e3182560209. 22739561