Paralogue Annotation for KCNJ2 residue 154

Residue details

Gene: KCNJ2
Reference Sequences: LRG: LRG_328, Ensembl variant: ENST00000535240 / ENSP00000441848
Amino Acid Position: 154
Reference Amino Acid: C - Cysteine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNJ2 residue 154

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNJ10	C140R	SeSAME syndrome	High	9	19289823, 20678478, 20807765, 21088294

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	SEVNSFTAAFLFSIETQTTIGYGFRCVTDE>C<PIAVFMVVFQSIVGCIIDAFIIGAVMAKMA	184
KCNJ1	ENINGLTSAFLFSLETQVTIGYGFRCVTEQ>C<ATAIFLLIFQSILGVIINSFMCGAILAKIS	183
KCNJ3	ANVYNFPSAFLFFIETEATIGYGYRYITDK>C<PEGIILFLFQSILGSIVDAFLIGCMFIKMS	185
KCNJ4	MHVNGFLGAFLFSVETQTTIGYGFRCVTEE>C<PLAVIAVVVQSIVGCVIDSFMIGTIMAKMA	176
KCNJ5	ENLSGFVSAFLFSIETETTIGYGFRVITEK>C<PEGIILLLVQAILGSIVNAFMVGCMFVKIS	191
KCNJ6	TNLNGFVSAFLFSIETETTIGYGYRVITDK>C<PEGIILLLIQSVLGSIVNAFMVGCMFVKIS	194
KCNJ8	TNVRSFTSAFLFSIEVQVTIGFGGRMMTEE>C<PLAITVLILQNIVGLIINAVMLGCIFMKTA	182
KCNJ9	NNLNGFVAAFLFSIETETTIGYGHRVITDQ>C<PEGIVLLLLQAILGSMVNAFMVGCMFVKIS	162
KCNJ10	VQVHTLTGAFLFSLESQTTIGYGFRYISEE>C<PLAIVLLIAQLVLTTILEIFITGTFLAKIA	170
KCNJ11	TSIHSFSSAFLFSIEVQVTIGFGGRMVTEE>C<PLAILILIVQNIVGLMINAIMLGCIFMKTA	172
KCNJ12	MQVHGFMAAFLFSIETQTTIGYGLRCVTEE>C<PVAVFMVVAQSIVGCIIDSFMIGAIMAKMA	185
KCNJ13	KYITSFTAAFSFSLETQLTIGYGTMFPSGD>C<PSAIALLAIQMLLGLMLEAFITGAFVAKIA	161
KCNJ14	SHVASFLAAFLFALETQTSIGYGVRSVTEE>C<PAAVAAVVLQCIAGCVLDAFVVGAVMAKMA	189
KCNJ15	MKVDSLTGAFLFSLESQTTIGYGVRSITEE>C<PHAIFLLVAQLVITTLIEIFITGTFLAKIA	169
KCNJ16	DNVHSFTGAFLFSLETQTTIGYGYRCVTEE>C<SVAVLMVILQSILSCIINTFIIGAALAKMA	173
cons	> <

See full Alignment of Paralogues

Known Variants in KCNJ2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C154F	c.461G>T	Inherited Arrhythmia	LQTS	rs199473380	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	In vivo and in vitro functional characterization of Andersen's syndrome mutations. J Physiol. 2005 565(Pt 3):731-41. 15831539