Paralogue Annotation for KCNJ2 residue 364

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 364
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNJ2 residue 364

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ11	D352H	Diabetes, transient neonatal	Medium	5	22308870

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	KVDYSRFHKTYEVPNTPL----CSARDLAE>K<----KYILSNA-----N-SFCYENE----V	380
KCNJ1	RVDFHNFSKTVEVET-PH----CAMCLYNE>K<DVR---------------------------	366
KCNJ3	KVDYSQFHATFEVP-TPP----YSVKEQEE>M<LLMSSPLIAPA-ITNSKERHNSVEC----L	389
KCNJ4	KVDYSRFHKTYEVAGTPC----CSARELQE>S<----KITVLPAPPPPPS-AFCYENE----L	377
KCNJ5	EVDYNTFHDTYETN-TPS----CCAKELAE>M<KREGRLLQYLP-SPPLLGGCAEAGL----D	395
KCNJ6	EVDYNSFHETYETS-TPS----LSAKELAE>L<ASRAELPLSWS-VSSKLNQHAELET----E	398
KCNJ8	SVDYSKFGNTVKVA-APR----CSARELDE>K<PSILIQTLQKSELS-H------QNS----L	380
KCNJ9	EVDYASFHETFEVP-TPS----CSARELAE>A<AARLDAHLYWS-IPSRLDEKVEEEG----A	366
KCNJ10	IADFSLFDQVVKVAS-PSGLRDSTVRYGDP>E<KLK--------------------------L	357
KCNJ11	SVDYSKFGNTVKVP-TPL----CTARQLDE>D<HSLLEALTLAS----A------RGP----L	368
KCNJ12	KIDYSHFHKTYEVPSTPR----CSAKDLVE>N<----KFLLPSA-----N-SFCYENE----L	381
KCNJ13	QIKMENFDKTVPEFPTPL----VS-KSP-->-<NRT---------------------------	337
KCNJ14	EVDYRHFHRTYEVPGTPV----CSAKELDE>R<AEQASHSLKSSFPGSLT-AFCYENE----L	394
KCNJ15	VADFSQFEQIRKSP---D----CTFYCADS>E<KQQ--------------------------L	351
KCNJ16	KVNCLQFEGSVEVY-APF----CSAKQLDW>K<----DQQLHIEKAPPVR-ESCTSDTKARRR	372
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K364N	c.1092G>T	Putative Benign			SIFT: Polyphen: