Paralogue Annotation for KCNE1 residue 36

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 36
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE1 residue 36

No paralogue variants have been mapped to residue 36 for KCNE1.

KCNE1	WQE---T------VQQGGN-MSGLA-RRSP>R<SSDGKLEALYVLMVLGFFGFFTLGIMLSYI	66
KCNE2	FITYMDNW----RQNTTAEQEALQA-KVDA>E<NFY--YVILYLMVMIGMFSFIIVAILVSTV	72
KCNE3	NATLHSNLLCRPGPGLGPD-NQTEERRASL>P<GR-DDNSYMYILFVMFLFAVTVGSLILGYT	80
KCNE4	KMEPLNST----HPGTAASSSPLES-RAAG>G<GSGNGNEYFYILVVMSFYGIFLIGIMLGYM	58
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See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R36H	c.107G>A	Inherited Arrhythmia	LQTS	rs199473351	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944
p.R36C	c.106C>T	Putative Benign		rs372398235	SIFT: tolerated Polyphen: possibly damaging
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510