Paralogue Annotation for KCNJ2 residue 80

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 80
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNJ2 residue 80

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ11	K67N	Hyperinsulinism	Medium	9	12364426, 12627323
KCNJ1	K76E	Bartter syndrome	Medium	9	23782368

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	GHCNVQFINVGEKGQ--RYLADIFTTCVDI>R<WRWMLVIFCLAFVLSWLFFGCVFWLIALLH	110
KCNJ1	GRCNIEFGNVEA-QSRFIFFVDIWTTVLDL>K<WRYKMTIFITAFLGSWFFFGLLWYAVAYIH	106
KCNJ3	GRCNVQHGNLGSETS--RYLSDLFTTLVDL>K<WRWNLFIFILTYTVAWLFMASMWWVIAYTR	109
KCNJ4	GQCNVYFANLSNKSQ--RYMADIFTTCVDT>R<WRYMLMIFSAAFLVSWLFFGLLFWCIAFFH	84
KCNJ5	GKCNVHHGNVQ-ETY--RYLSDLFTTLVDL>K<WRFNLLVFTMVYTVTWLFFGFIWWLIAYIR	115
KCNJ6	GKCNVHHGNVR-ETY--RYLTDIFTTLVDL>K<WRFNLLIFVMVYTVTWLFFGMIWWLIAYIR	118
KCNJ8	GACNLAHKNIR-EQG--RFLQDIFTTLVDL>K<WRHTLVIFTMSFLCSWLLFAIMWWLVAFAH	98
KCNJ9	GRCNVQQGNVR-ETY--RYLTDLFTTLVDL>Q<WRLSLLFFVLAYALTWLFFGAIWWLIAYGR	86
KCNJ10	GRSNVRMEHIADKRF--LYLKDLWTTFIDM>Q<WRYKLLLFSATFAGTWFLFGVVWYLVAVAH	93
KCNJ11	GNCNVAHKNIR-EQG--RFLQDVFTTLVDL>K<WPHTLLIFTMSFLCSWLLFAMAWWLIAFAH	97
KCNJ12	GQCNIEFANMDEKSQ--RYLADMFTTCVDI>R<WRYMLLIFSLAFLASWLLFGIIFWVIAVAH	109
KCNJ13	GHSTLQMDGAQR-GL--AYLRDAWGILMDM>R<WRWMMLVFSASFVVHWLVFAVLWYVLAEMN	82
KCNJ14	GHCNVRFVNLGGQGA--RYLSDLFTTCVDV>R<WRWMCLLFSCSFLASWLLFGLAFWLIASLH	115
KCNJ15	GHSNVRIDKVDGIYL--LYLQDLWTTVIDM>K<WRYKLTLFAATFVMTWFLFGVIYYAIAFIH	92
KCNJ16	GSCNVYFKHIFGEWG--SYVVDIFTTLVDT>K<WRHMFVIFSLSYILSWLIFGSVFWLIAFHH	99
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R80C	c.238C>T	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Phenotype variability in patients carrying KCNJ2 mutations. Circ Cardiovasc Genet. 2012 5(3):344-53. doi: 10.1161/CIRCGENETICS.111.962316. 22589293