Paralogue Annotation for KCNJ2 residue 142

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 142
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 142

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ1	T141I	Bartter syndrome	High	9	20219833
KCNJ11	T130I	Hyperinsulinism	High	9	26581065

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	-----KEGKACVSEVNSFTAAFLFSIETQT>T<IGYGFRCVTDECPIAVFMVVFQSIVGCIID	172
KCNJ1	----SANHTPCVENINGLTSAFLFSLETQV>T<IGYGFRCVTEQCATAIFLLIFQSILGVIIN	171
KCNJ3	-----GNYTPCVANVYNFPSAFLFFIETEA>T<IGYGYRYITDKCPEGIILFLFQSILGSIVD	173
KCNJ4	GGAAPVAPKPCIMHVNGFLGAFLFSVETQT>T<IGYGFRCVTEECPLAVIAVVVQSIVGCVID	164
KCNJ5	-----QEWIPCVENLSGFVSAFLFSIETET>T<IGYGFRVITEKCPEGIILLLVQAILGSIVN	179
KCNJ6	-----PSWTPCVTNLNGFVSAFLFSIETET>T<IGYGYRVITDKCPEGIILLLIQSVLGSIVN	182
KCNJ8	MEKSGLESTVCVTNVRSFTSAFLFSIEVQV>T<IGFGGRMMTEECPLAITVLILQNIVGLIIN	170
KCNJ9	-----TAWTPCVNNLNGFVAAFLFSIETET>T<IGYGHRVITDQCPEGIVLLLLQAILGSMVN	150
KCNJ10	----PANHTPCVVQVHTLTGAFLFSLESQT>T<IGYGFRYISEECPLAIVLLIAQLVLTTILE	158
KCNJ11	---GTA--EPCVTSIHSFSSAFLFSIEVQV>T<IGFGGRMVTEECPLAILILIVQNIVGLMIN	160
KCNJ12	-----RGRTPCVMQVHGFMAAFLFSIETQT>T<IGYGLRCVTEECPVAVFMVVAQSIVGCIID	173
KCNJ13	----PENHTICVKYITSFTAAFSFSLETQL>T<IGYGTMFPSGDCPSAIALLAIQMLLGLMLE	149
KCNJ14	------PPAPCFSHVASFLAAFLFALETQT>S<IGYGVRSVTEECPAAVAAVVLQCIAGCVLD	177
KCNJ15	----ISNHTPCIMKVDSLTGAFLFSLESQT>T<IGYGVRSITEECPHAIFLLVAQLVITTLIE	157
KCNJ16	------DITPCVDNVHSFTGAFLFSLETQT>T<IGYGYRCVTEECSVAVLMVILQSILSCIIN	161
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

There are currently no reported variants at residue 142 for KCNJ2.