Paralogue Annotation for KCNJ2 residue 151

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 151
Reference Amino Acid: T - Threonine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 151

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ5	T158A	Aldosteronism with bilateral adrenal hyperplasia	High	9

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	ACVSEVNSFTAAFLFSIETQTTIGYGFRCV>T<DECPIAVFMVVFQSIVGCIIDAFIIGAVMA	181
KCNJ1	PCVENINGLTSAFLFSLETQVTIGYGFRCV>T<EQCATAIFLLIFQSILGVIINSFMCGAILA	180
KCNJ3	PCVANVYNFPSAFLFFIETEATIGYGYRYI>T<DKCPEGIILFLFQSILGSIVDAFLIGCMFI	182
KCNJ4	PCIMHVNGFLGAFLFSVETQTTIGYGFRCV>T<EECPLAVIAVVVQSIVGCVIDSFMIGTIMA	173
KCNJ5	PCVENLSGFVSAFLFSIETETTIGYGFRVI>T<EKCPEGIILLLVQAILGSIVNAFMVGCMFV	188
KCNJ6	PCVTNLNGFVSAFLFSIETETTIGYGYRVI>T<DKCPEGIILLLIQSVLGSIVNAFMVGCMFV	191
KCNJ8	VCVTNVRSFTSAFLFSIEVQVTIGFGGRMM>T<EECPLAITVLILQNIVGLIINAVMLGCIFM	179
KCNJ9	PCVNNLNGFVAAFLFSIETETTIGYGHRVI>T<DQCPEGIVLLLLQAILGSMVNAFMVGCMFV	159
KCNJ10	PCVVQVHTLTGAFLFSLESQTTIGYGFRYI>S<EECPLAIVLLIAQLVLTTILEIFITGTFLA	167
KCNJ11	PCVTSIHSFSSAFLFSIEVQVTIGFGGRMV>T<EECPLAILILIVQNIVGLMINAIMLGCIFM	169
KCNJ12	PCVMQVHGFMAAFLFSIETQTTIGYGLRCV>T<EECPVAVFMVVAQSIVGCIIDSFMIGAIMA	182
KCNJ13	ICVKYITSFTAAFSFSLETQLTIGYGTMFP>S<GDCPSAIALLAIQMLLGLMLEAFITGAFVA	158
KCNJ14	PCFSHVASFLAAFLFALETQTSIGYGVRSV>T<EECPAAVAAVVLQCIAGCVLDAFVVGAVMA	186
KCNJ15	PCIMKVDSLTGAFLFSLESQTTIGYGVRSI>T<EECPHAIFLLVAQLVITTLIEIFITGTFLA	166
KCNJ16	PCVDNVHSFTGAFLFSLETQTTIGYGYRCV>T<EECSVAVLMVILQSILSCIINTFIIGAALA	170
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T151M	c.452C>T	Putative Benign			SIFT: Polyphen: