Paralogue Annotation for KCNJ2 residue 298

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 298
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNJ2 residue 298

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ1	L297S	Bartter syndrome	High	9	19096086

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	IVHEIDEDSPLYDLSKQDID-NADFEIVVI>L<EGMVEATAMTTQCRSSYLANEILWGHRYEP	328
KCNJ1	IYHVIDHNSPFFHMAAETLL-QQDFELVVF>L<DGTVESTSATCQVRTSYVPEEVLWGYRFAP	327
KCNJ3	ICHVIDAKSPFYDLSQRSMQ-TEQFEIVVI>L<EGIVETTGMTCQARTSYTEDEVLWGHRFFP	329
KCNJ4	IVHEIDEDSPLYGMGKEELE-SEDFEIVVI>L<EGMVEATAMTTQARSSYLASEILWGHRFEP	320
KCNJ5	ISHEINQKSPFWEMSQAQLH-QEEFEVVVI>L<EGMVEATGMTCQARSSYMDTEVLWGHRFTP	335
KCNJ6	ISHEINQQSPFWEISKAQLP-KEELEIVVI>L<EGMVEATGMTCQARSSYITSEILWGYRFTP	338
KCNJ8	ICHVIDKRSPLYDISATDLA-NQDLEVIVI>L<EGVVETTGITTQARTSYIAEEIQWGHRFVS	326
KCNJ9	ISHEIDAASPFWEASRRALE-RDDFEIVVI>L<EGMVEATGMTCQARSSYLVDEVLWGHRFTS	306
KCNJ10	FYHVVDETSPLKDLPLRSG--EGDFELVLI>L<SGTVESTSATCQVRTSYLPEEILWGYEFTP	313
KCNJ11	IYHVIDANSPLYDLAPSDLHHHQDLEIIVI>L<EGVVETTGITTQARTSYLADEILWGQRFVP	317
KCNJ12	ILHEIDEASPLFGISRQDLE-TDDFEIVVI>L<EGMVEATAMTTQARSSYLANEILWGHRFEP	329
KCNJ13	YYHSITPSSPLATLLQHE-N-PSHFELVVF>L<SAMQEGTGEICQRRTSYLPSEIMLHHCFAS	301
KCNJ14	IVHEIDSASPLYELGRAELA-RADFELVVI>L<EGMVEATAMTTQCRSSYLPGELLWGHRFEP	333
KCNJ15	FYHVLDETSPLRDLTPQNLK-EKEFELVVL>L<NATVESTSAVCQSRTSYIPEEIYWGFEFVP	313
KCNJ16	IVHEIDHESPLYALDRKAVA-KDNFEILVT>F<IYTGDSTGTSHQSRSSYVPREILWGHRFND	312
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See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L298R	c.893T>G	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation. Europace. 2013 23867365