Paralogue Annotation for KCNJ2 residue 267

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 267
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNJ2 residue 267

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ13	L241P	Leber congenital amaurosis	Medium	9	21763485

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	EGEYIPLDQIDINVGFD--SGIDRIFLVSP>I<TIVHEIDEDSPLYDLSKQDID-NADFEIVV	296
KCNJ1	EGETIILDQININFVVD--AGNENLFFISP>L<TIYHVIDHNSPFFHMAAETLL-QQDFELVV	295
KCNJ3	EGEFLPLDQLELDVGFS--TGADQLFLVSP>L<TICHVIDAKSPFYDLSQRSMQ-TEQFEIVV	297
KCNJ4	EGEYLPLDQRDLNVGYD--IGLDRIFLVSP>I<IIVHEIDEDSPLYGMGKEELE-SEDFEIVV	288
KCNJ5	EGEFIPLNQTDINVGFD--TGDDRLFLVSP>L<IISHEINQKSPFWEMSQAQLH-QEEFEVVV	303
KCNJ6	EGEFIPLNQTDINVGYY--TGDDRLFLVSP>L<IISHEINQQSPFWEISKAQLP-KEELEIVV	306
KCNJ8	EGEVVPIHQLDIPVDNP--IESNNIFLVAP>L<IICHVIDKRSPLYDISATDLA-NQDLEVIV	294
KCNJ9	EGEFIPLHQTDLSVGFD--TGDDRLFLVSP>L<VISHEIDAASPFWEASRRALE-RDDFEIVV	274
KCNJ10	EGENIRLNQVNVTFQVD--TASDSPFLILP>L<TFYHVVDETSPLKDLPLRSG--EGDFELVL	281
KCNJ11	EGEVVPLHQVDIPMENG--VGGNSIFLVAP>L<IIYHVIDANSPLYDLAPSDLHHHQDLEIIV	285
KCNJ12	EGEYIPLDQIDIDVGFD--KGLDRIFLVSP>I<TILHEIDEASPLFGISRQDLE-TDDFEIVV	297
KCNJ13	K----L-YQTSVDFHLDGISSDECPFFIFP>L<TYYHSITPSSPLATLLQHE-N-PSHFELVV	269
KCNJ14	EGEYIPLDHQDVDVGFD--GGTDRIFLVSP>I<TIVHEIDSASPLYELGRAELA-RADFELVV	301
KCNJ15	EGERILLNQATVKFHVD--SSSESPFLILP>M<TFYHVLDETSPLRDLTPQNLK-EKEFELVV	281
KCNJ16	EGRM-TMAFKDLKLV------NDQIILVTP>V<TIVHEIDHESPLYALDRKAVA-KDNFEILV	280
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I267V	c.799A>G	Putative Benign			SIFT: Polyphen: