Paralogue Annotation for KCNJ2 residue 322

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 322
Reference Amino Acid: W - Tryptophan
Protein Domain: C-terminus

Paralogue Variants mapped to KCNJ2 residue 322

No paralogue variants have been mapped to residue 322 for KCNJ2.

KCNJ2	FEIVVILEGMVEATAMTTQCRSSYLANEIL>W<GHRYEPVLFEE-KHYYKVDYSRFHKTYEVP	351
KCNJ1	FELVVFLDGTVESTSATCQVRTSYVPEEVL>W<GYRFAPIVSKTKEGKYRVDFHNFSKTVEVE	351
KCNJ3	FEIVVILEGIVETTGMTCQARTSYTEDEVL>W<GHRFFPVISLE-EGFFKVDYSQFHATFEVP	352
KCNJ4	FEIVVILEGMVEATAMTTQARSSYLASEIL>W<GHRFEPVVFEE-KSHYKVDYSRFHKTYEVA	343
KCNJ5	FEVVVILEGMVEATGMTCQARSSYMDTEVL>W<GHRFTPVLTLE-KGFYEVDYNTFHDTYETN	358
KCNJ6	LEIVVILEGMVEATGMTCQARSSYITSEIL>W<GYRFTPVLTLE-DGFYEVDYNSFHETYETS	361
KCNJ8	LEVIVILEGVVETTGITTQARTSYIAEEIQ>W<GHRFVSIVTEE-EGVYSVDYSKFGNTVKVA	349
KCNJ9	FEIVVILEGMVEATGMTCQARSSYLVDEVL>W<GHRFTSVLTLE-DGFYEVDYASFHETFEVP	329
KCNJ10	FELVLILSGTVESTSATCQVRTSYLPEEIL>W<GYEFTPAISLSASGKYIADFSLFDQVVKVA	337
KCNJ11	LEIIVILEGVVETTGITTQARTSYLADEIL>W<GQRFVPIVAEE-DGRYSVDYSKFGNTVKVP	340
KCNJ12	FEIVVILEGMVEATAMTTQARSSYLANEIL>W<GHRFEPVLFEE-KNQYKIDYSHFHKTYEVP	352
KCNJ13	FELVVFLSAMQEGTGEICQRRTSYLPSEIM>L<HHCFASLLTRGSKGEYQIKMENFDKTVPEF	325
KCNJ14	FELVVILEGMVEATAMTTQCRSSYLPGELL>W<GHRFEPVLFQR-GSQYEVDYRHFHRTYEVP	356
KCNJ15	FELVVLLNATVESTSAVCQSRTSYIPEEIY>W<GFEFVPVVSLSKNGKYVADFSQFEQIRKSP	337
KCNJ16	FEILVTFIYTGDSTGTSHQSRSSYVPREIL>W<GHRFNDVLEVK-RKYYKVNCLQFEGSVEVY	335
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See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W322C	c.966G>C	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype. Basic Res Cardiol. 2013 108(3):353. doi: 10.1007/s00395-013-0353-1. 23644778