Paralogue Annotation for KCNJ2 residue 351

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 351
Reference Amino Acid: P - Proline
Protein Domain: C-terminus

Paralogue Variants mapped to KCNJ2 residue 351

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ11	P340H	Hyperinsulinism	High	9	24401662

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in KCNJ2.

KCNJ2	WGHRYEPVLFEE-KHYYKVDYSRFHKTYEV>P<NTPL----CSARDLAEK----KYILSNA--	371
KCNJ1	WGYRFAPIVSKTKEGKYRVDFHNFSKTVEV>E<T-PH----CAMCLYNEKDVR----------	366
KCNJ3	WGHRFFPVISLE-EGFFKVDYSQFHATFEV>P<-TPP----YSVKEQEEMLLMSSPLIAPA-I	376
KCNJ4	WGHRFEPVVFEE-KSHYKVDYSRFHKTYEV>A<GTPC----CSARELQES----KITVLPAPP	365
KCNJ5	WGHRFTPVLTLE-KGFYEVDYNTFHDTYET>N<-TPS----CCAKELAEMKREGRLLQYLP-S	382
KCNJ6	WGYRFTPVLTLE-DGFYEVDYNSFHETYET>S<-TPS----LSAKELAELASRAELPLSWS-V	385
KCNJ8	WGHRFVSIVTEE-EGVYSVDYSKFGNTVKV>A<-APR----CSARELDEKPSILIQTLQKSEL	374
KCNJ9	WGHRFTSVLTLE-DGFYEVDYASFHETFEV>P<-TPS----CSARELAEAAARLDAHLYWS-I	353
KCNJ10	WGYEFTPAISLSASGKYIADFSLFDQVVKV>A<S-PSGLRDSTVRYGDPEKLK----------	356
KCNJ11	WGQRFVPIVAEE-DGRYSVDYSKFGNTVKV>P<-TPL----CTARQLDEDHSLLEALTLAS--	363
KCNJ12	WGHRFEPVLFEE-KNQYKIDYSHFHKTYEV>P<STPR----CSAKDLVEN----KFLLPSA--	372
KCNJ13	LHHCFASLLTRGSKGEYQIKMENFDKTVPE>F<PTPL----VS-KSP---NRT----------	337
KCNJ14	WGHRFEPVLFQR-GSQYEVDYRHFHRTYEV>P<GTPV----CSAKELDERAEQASHSLKSSFP	382
KCNJ15	WGFEFVPVVSLSKNGKYVADFSQFEQIRKS>P<---D----CTFYCADSEKQQ----------	350
KCNJ16	WGHRFNDVLEVK-RKYYKVNCLQFEGSVEV>Y<-APF----CSAKQLDWK----DQQLHIEKA	356
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See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P351S	c.1051C>T	Inherited Arrhythmia	LQTS	rs199473659	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome. Hum Mutat. 2007 28(2):208. 17221872