Paralogue Annotation for KCNE2 residue 55

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 55
Reference Amino Acid: V - Valine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNE2 residue 55

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE1	M49I	Long QT syndrome	Medium	9	23631430

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	QNTTAEQEALQA-KVDAENFY--YVILYLM>V<MIGMFSFIIVAILVSTVKSKRREHSNDPYH	85
KCNE1	VQQGGN-MSGLA-RRSPRSSDGKLEALYVL>M<VLGFFGFFTLGIMLSYIRSKKLEHSNDPFN	79
KCNE3	PGLGPD-NQTEERRASLPGR-DDNSYMYIL>F<VMFLFAVTVGSLILGYTRSRKVDKRSDPYH	93
KCNE4	PGTAASSSPLES-RAAGGGSGNGNEYFYIL>V<VMSFYGIFLIGIMLGYMKSKRREKKSSLLL	71
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE2

There are currently no reported variants at residue 55 for KCNE2.