Paralogue Annotation for KCNJ2 residue 346

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 346
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNJ2 residue 346

No paralogue variants have been mapped to residue 346 for KCNJ2.

KCNJ2	ANEILWGHRYEPVLFEE-KHYYKVDYSRFH>K<TYEVPNTPL----CSARDLAEK----KYIL	368
KCNJ1	PEEVLWGYRFAPIVSKTKEGKYRVDFHNFS>K<TVEVET-PH----CAMCLYNEKDVR-----	366
KCNJ3	EDEVLWGHRFFPVISLE-EGFFKVDYSQFH>A<TFEVP-TPP----YSVKEQEEMLLMSSPLI	372
KCNJ4	ASEILWGHRFEPVVFEE-KSHYKVDYSRFH>K<TYEVAGTPC----CSARELQES----KITV	360
KCNJ5	DTEVLWGHRFTPVLTLE-KGFYEVDYNTFH>D<TYETN-TPS----CCAKELAEMKREGRLLQ	378
KCNJ6	TSEILWGYRFTPVLTLE-DGFYEVDYNSFH>E<TYETS-TPS----LSAKELAELASRAELPL	381
KCNJ8	AEEIQWGHRFVSIVTEE-EGVYSVDYSKFG>N<TVKVA-APR----CSARELDEKPSILIQTL	369
KCNJ9	VDEVLWGHRFTSVLTLE-DGFYEVDYASFH>E<TFEVP-TPS----CSARELAEAAARLDAHL	349
KCNJ10	PEEILWGYEFTPAISLSASGKYIADFSLFD>Q<VVKVAS-PSGLRDSTVRYGDPEKLK-----	356
KCNJ11	ADEILWGQRFVPIVAEE-DGRYSVDYSKFG>N<TVKVP-TPL----CTARQLDEDHSLLEALT	360
KCNJ12	ANEILWGHRFEPVLFEE-KNQYKIDYSHFH>K<TYEVPSTPR----CSAKDLVEN----KFLL	369
KCNJ13	PSEIMLHHCFASLLTRGSKGEYQIKMENFD>K<TVPEFPTPL----VS-KSP---NRT-----	337
KCNJ14	PGELLWGHRFEPVLFQR-GSQYEVDYRHFH>R<TYEVPGTPV----CSAKELDERAEQASHSL	377
KCNJ15	PEEIYWGFEFVPVVSLSKNGKYVADFSQFE>Q<IRKSP---D----CTFYCADSEKQQ-----	350
KCNJ16	PREILWGHRFNDVLEVK-RKYYKVNCLQFE>G<SVEVY-APF----CSAKQLDWK----DQQL	351
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See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K346T	c.1037A>C	Inherited Arrhythmia	SQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	SQTS	Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype. Hum Mol Genet. 2014 23(18):4875-86. doi: 10.1093/hmg/ddu201. 24794859