Paralogue Annotation for KCNE2 residue 53

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 53
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNE2 residue 53

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE1	V47F	Long QT syndrome	Medium	9	10400998
KCNE1	V47I	Tinnitus ?	Medium	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 KCNE2.

KCNE2	-RQNTTAEQEALQA-KVDAENFY--YVILY>L<MVMIGMFSFIIVAILVSTVKSKRREHSNDP	83
KCNE1	--VQQGGN-MSGLA-RRSPRSSDGKLEALY>V<LMVLGFFGFFTLGIMLSYIRSKKLEHSNDP	77
KCNE3	PGPGLGPD-NQTEERRASLPGR-DDNSYMY>I<LFVMFLFAVTVGSLILGYTRSRKVDKRSDP	91
KCNE4	-HPGTAASSSPLES-RAAGGGSGNGNEYFY>I<LVVMSFYGIFLIGIMLGYMKSKRREKKSSL	69
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE2

There are currently no reported variants at residue 53 for KCNE2.