Paralogue Annotation for KCNJ2 residue 148

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 148
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 148

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ11	R136H	Hyperinsulinism	High	9	20686794
KCNJ11	R136L	Hyperinsulinism	High	9	14715863
KCNJ11	R136C	Hyperinsulinism	High	9	20685672
KCNJ11	R136S	Hyperinsulinism	High	9	24401662

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	EGKACVSEVNSFTAAFLFSIETQTTIGYGF>R<CVTDECPIAVFMVVFQSIVGCIIDAFIIGA	178
KCNJ1	NHTPCVENINGLTSAFLFSLETQVTIGYGF>R<CVTEQCATAIFLLIFQSILGVIINSFMCGA	177
KCNJ3	NYTPCVANVYNFPSAFLFFIETEATIGYGY>R<YITDKCPEGIILFLFQSILGSIVDAFLIGC	179
KCNJ4	APKPCIMHVNGFLGAFLFSVETQTTIGYGF>R<CVTEECPLAVIAVVVQSIVGCVIDSFMIGT	170
KCNJ5	EWIPCVENLSGFVSAFLFSIETETTIGYGF>R<VITEKCPEGIILLLVQAILGSIVNAFMVGC	185
KCNJ6	SWTPCVTNLNGFVSAFLFSIETETTIGYGY>R<VITDKCPEGIILLLIQSVLGSIVNAFMVGC	188
KCNJ8	ESTVCVTNVRSFTSAFLFSIEVQVTIGFGG>R<MMTEECPLAITVLILQNIVGLIINAVMLGC	176
KCNJ9	AWTPCVNNLNGFVAAFLFSIETETTIGYGH>R<VITDQCPEGIVLLLLQAILGSMVNAFMVGC	156
KCNJ10	NHTPCVVQVHTLTGAFLFSLESQTTIGYGF>R<YISEECPLAIVLLIAQLVLTTILEIFITGT	164
KCNJ11	--EPCVTSIHSFSSAFLFSIEVQVTIGFGG>R<MVTEECPLAILILIVQNIVGLMINAIMLGC	166
KCNJ12	GRTPCVMQVHGFMAAFLFSIETQTTIGYGL>R<CVTEECPVAVFMVVAQSIVGCIIDSFMIGA	179
KCNJ13	NHTICVKYITSFTAAFSFSLETQLTIGYGT>M<FPSGDCPSAIALLAIQMLLGLMLEAFITGA	155
KCNJ14	PPAPCFSHVASFLAAFLFALETQTSIGYGV>R<SVTEECPAAVAAVVLQCIAGCVLDAFVVGA	183
KCNJ15	NHTPCIMKVDSLTGAFLFSLESQTTIGYGV>R<SITEECPHAIFLLVAQLVITTLIEIFITGT	163
KCNJ16	DITPCVDNVHSFTGAFLFSLETQTTIGYGY>R<CVTEECSVAVLMVILQSILSCIINTFIIGA	167
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

There are currently no reported variants at residue 148 for KCNJ2.