Paralogue Annotation for KCNJ2 residue 143

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 143
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 143

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ1	I142T	Bartter syndrome	High	9	11318951
KCNJ10	I129V	SeSAME syndrome	High	9	22612257
KCNJ13	I120T	Vitreoretinal dystrophy with early-onset cataract	High	9	25475713, 26355662

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	----KEGKACVSEVNSFTAAFLFSIETQTT>I<GYGFRCVTDECPIAVFMVVFQSIVGCIIDA	173
KCNJ1	---SANHTPCVENINGLTSAFLFSLETQVT>I<GYGFRCVTEQCATAIFLLIFQSILGVIINS	172
KCNJ3	----GNYTPCVANVYNFPSAFLFFIETEAT>I<GYGYRYITDKCPEGIILFLFQSILGSIVDA	174
KCNJ4	GAAPVAPKPCIMHVNGFLGAFLFSVETQTT>I<GYGFRCVTEECPLAVIAVVVQSIVGCVIDS	165
KCNJ5	----QEWIPCVENLSGFVSAFLFSIETETT>I<GYGFRVITEKCPEGIILLLVQAILGSIVNA	180
KCNJ6	----PSWTPCVTNLNGFVSAFLFSIETETT>I<GYGYRVITDKCPEGIILLLIQSVLGSIVNA	183
KCNJ8	EKSGLESTVCVTNVRSFTSAFLFSIEVQVT>I<GFGGRMMTEECPLAITVLILQNIVGLIINA	171
KCNJ9	----TAWTPCVNNLNGFVAAFLFSIETETT>I<GYGHRVITDQCPEGIVLLLLQAILGSMVNA	151
KCNJ10	---PANHTPCVVQVHTLTGAFLFSLESQTT>I<GYGFRYISEECPLAIVLLIAQLVLTTILEI	159
KCNJ11	--GTA--EPCVTSIHSFSSAFLFSIEVQVT>I<GFGGRMVTEECPLAILILIVQNIVGLMINA	161
KCNJ12	----RGRTPCVMQVHGFMAAFLFSIETQTT>I<GYGLRCVTEECPVAVFMVVAQSIVGCIIDS	174
KCNJ13	---PENHTICVKYITSFTAAFSFSLETQLT>I<GYGTMFPSGDCPSAIALLAIQMLLGLMLEA	150
KCNJ14	-----PPAPCFSHVASFLAAFLFALETQTS>I<GYGVRSVTEECPAAVAAVVLQCIAGCVLDA	178
KCNJ15	---ISNHTPCIMKVDSLTGAFLFSLESQTT>I<GYGVRSITEECPHAIFLLVAQLVITTLIEI	158
KCNJ16	-----DITPCVDNVHSFTGAFLFSLETQTT>I<GYGYRCVTEECSVAVLMVILQSILSCIINT	162
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

There are currently no reported variants at residue 143 for KCNJ2.