Paralogue Annotation for KCNE2 residue 59

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 59
Reference Amino Acid: M - Methionine
Protein Domain: Transmembrane region

Paralogue Variants mapped to KCNE2 residue 59

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE1	F53S	Long QT syndrome	Medium	9	16414944

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	AEQEALQA-KVDAENFY--YVILYLMVMIG>M<FSFIIVAILVSTVKSKRREHSNDPYHQYIV	89
KCNE1	GN-MSGLA-RRSPRSSDGKLEALYVLMVLG>F<FGFFTLGIMLSYIRSKKLEHSNDPFNVYIE	83
KCNE3	PD-NQTEERRASLPGR-DDNSYMYILFVMF>L<FAVTVGSLILGYTRSRKVDKRSDPYHVYIK	97
KCNE4	ASSSPLES-RAAGGGSGNGNEYFYILVVMS>F<YGIFLIGIMLGYMKSKRREKKSSLLLLYKD	75
cons	> <

See full Alignment of Paralogues

Known Variants in KCNE2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M59V	c.175A>G	Putative Benign			SIFT: Polyphen:
p.M59L	c.175A>C	Putative Benign			SIFT: Polyphen: