Paralogue Annotation for KCNJ2 residue 279

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 279
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNJ2 residue 279

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ11	L267L	Hyperinsulinaemic hypoglycaemia	High	9	25972930

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	NVGFD--SGIDRIFLVSPITIVHEIDEDSP>L<YDLSKQDID-NADFEIVVILEGMVEATAMT	308
KCNJ1	NFVVD--AGNENLFFISPLTIYHVIDHNSP>F<FHMAAETLL-QQDFELVVFLDGTVESTSAT	307
KCNJ3	DVGFS--TGADQLFLVSPLTICHVIDAKSP>F<YDLSQRSMQ-TEQFEIVVILEGIVETTGMT	309
KCNJ4	NVGYD--IGLDRIFLVSPIIIVHEIDEDSP>L<YGMGKEELE-SEDFEIVVILEGMVEATAMT	300
KCNJ5	NVGFD--TGDDRLFLVSPLIISHEINQKSP>F<WEMSQAQLH-QEEFEVVVILEGMVEATGMT	315
KCNJ6	NVGYY--TGDDRLFLVSPLIISHEINQQSP>F<WEISKAQLP-KEELEIVVILEGMVEATGMT	318
KCNJ8	PVDNP--IESNNIFLVAPLIICHVIDKRSP>L<YDISATDLA-NQDLEVIVILEGVVETTGIT	306
KCNJ9	SVGFD--TGDDRLFLVSPLVISHEIDAASP>F<WEASRRALE-RDDFEIVVILEGMVEATGMT	286
KCNJ10	TFQVD--TASDSPFLILPLTFYHVVDETSP>L<KDLPLRSG--EGDFELVLILSGTVESTSAT	293
KCNJ11	PMENG--VGGNSIFLVAPLIIYHVIDANSP>L<YDLAPSDLHHHQDLEIIVILEGVVETTGIT	297
KCNJ12	DVGFD--KGLDRIFLVSPITILHEIDEASP>L<FGISRQDLE-TDDFEIVVILEGMVEATAMT	309
KCNJ13	DFHLDGISSDECPFFIFPLTYYHSITPSSP>L<ATLLQHE-N-PSHFELVVFLSAMQEGTGEI	281
KCNJ14	DVGFD--GGTDRIFLVSPITIVHEIDSASP>L<YELGRAELA-RADFELVVILEGMVEATAMT	313
KCNJ15	KFHVD--SSSESPFLILPMTFYHVLDETSP>L<RDLTPQNLK-EKEFELVVLLNATVESTSAV	293
KCNJ16	KLV------NDQIILVTPVTIVHEIDHESP>L<YALDRKAVA-KDNFEILVTFIYTGDSTGTS	292
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See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L279F	c.837A>C	Putative Benign			SIFT: Polyphen: