Paralogue Annotation for KCNJ2 residue 62

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 62
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNJ2 residue 62

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ11	R50G	Diabetes, permanent neonatal	Medium	6	17635943
KCNJ11	R50Q	Diabetes, permanent neonatal	Medium	6	16609879, 16731833, 22749773, 23462667, 21352428
KCNJ11	R50P	Diabetes, permanent neonatal	Medium	6	15580558, 16731833, 25739471, 25678012

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	NGKSKVHTRQQCRSRFVKKDGHCNVQFINV>G<EKGQ--RYLADIFTTCVDIRWRWMLVIFCL	90
KCNJ1	VT-R-FFGHSRQRARLVSKDGRCNIEFGNV>E<A-QSRFIFFVDIWTTVLDLKWRYKMTIFIT	86
KCNJ3	-PQQQLV-PKKKRQRFVDKNGRCNVQHGNL>G<SETS--RYLSDLFTTLVDLKWRWNLFIFIL	89
KCNJ4	NGQAHVP-RRKRRNRFVKKNGQCNVYFANL>S<NKSQ--RYMADIFTTCVDTRWRYMLMIFSA	64
KCNJ5	-RTRLLAEGKKPRQRYMEKSGKCNVHHGNV>Q<-ETY--RYLSDLFTTLVDLKWRFNLLVFTM	95
KCNJ6	-RDR----TKRKIQRYVRKDGKCNVHHGNV>R<-ETY--RYLTDIFTTLVDLKWRFNLLIFVM	98
KCNJ8	LRKP-RIRDRLPKARFIAKSGACNLAHKNI>R<-EQG--RFLQDIFTTLVDLKWRHTLVIFTM	78
KCNJ9	-GQE-EPPRRRGRQRYVEKDGRCNVQQGNV>R<-ETY--RYLTDLFTTLVDLQWRLSLLFFVL	66
KCNJ10	-R-P-LMGPGIRRRRVLTKDGRSNVRMEHI>A<DKRF--LYLKDLWTTFIDMQWRYKLLLFSA	73
KCNJ11	PAKP-RYRARQRRARFVSKKGNCNVAHKNI>R<-EQG--RFLQDVFTTLVDLKWPHTLLIFTM	77
KCNJ12	NGK--VHTRRRCRNRFVKKNGQCNIEFANM>D<EKSQ--RYLADMFTTCVDIRWRYMLLIFSL	89
KCNJ13	---------SQRYRRMVTKDGHSTLQMDGA>Q<R-GL--AYLRDAWGILMDMRWRWMMLVFSA	62
KCNJ14	QS----P-VGRRRGRFVKKDGHCNVRFVNL>G<GQGA--RYLSDLFTTCVDVRWRWMCLLFSC	95
KCNJ15	-T-A-GAGLKANRPRVMSKSGHSNVRIDKV>D<GIYL--LYLQDLWTTVIDMKWRYKLTLFAA	72
KCNJ16	PEH-IIAEKRRARRRLLHKDGSCNVYFKHI>F<GEWG--SYVVDIFTTLVDTKWRHMFVIFSL	79
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

There are currently no reported variants at residue 62 for KCNJ2.