Paralogue Annotation for KCNE1 residue 38

Residue details

Gene: KCNE1
Reference Sequences: LRG: LRG_290, Ensembl variant: ENST00000399289 / ENSP00000382228
Amino Acid Position: 38
Reference Amino Acid: S - Serine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE1 residue 38

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
KCNE3	R53H	Atrial fibrillation, familial	Low	3	16313760

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 KCNE1.

KCNE1	E---T------VQQGGN-MSGLA-RRSPRS>S<DGKLEALYVLMVLGFFGFFTLGIMLSYIRS	68
KCNE2	TYMDNW----RQNTTAEQEALQA-KVDAEN>F<Y--YVILYLMVMIGMFSFIIVAILVSTVKS	74
KCNE3	TLHSNLLCRPGPGLGPD-NQTEERRASLPG>R<-DDNSYMYILFVMFLFAVTVGSLILGYTRS	82
KCNE4	EPLNST----HPGTAASSSPLES-RAAGGG>S<GNGNEYFYILVVMSFYGIFLIGIMLGYMKS	60
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See full Alignment of Paralogues

Known Variants in KCNE1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S38G	c.112A>G	Conflict		rs199809486, rs1805127	SIFT: tolerated Polyphen: benign
Reports		Other Cardiac Phenotype		Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia. Ann Noninvasive Electrocardiol. 2008 13(2):180-90. 18426444
		Inherited Arrhythmia	LQTS	Mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes in a long QT syndrome family. Ann Acad Med Singapore. 2007 36(6):394-8. 17597962
		Inherited Arrhythmia	LQTS	DHPLC analysis of potassium ion channel genes in congenital long QT syndrome. Hum Mutat. 2002 20(5):382-91. 12402336
		Inherited Arrhythmia	LQTS	Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl). 2004 82(3):182-8. 14760488
		Inherited Arrhythmia	LQTS	Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore. Br J Clin Pharmacol. 2006 61(3):301-8. 16487223
		Inherited Arrhythmia	LQTS	Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007 115(3):361-7. 17210839
		Inherited Arrhythmia	LQTS	Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. Circulation. 1998 97(2):142-6. 9445165
		Putative Benign		Polymorphism of the gene encoding a human minimal potassium ion channel (minK). Gene. 1994 151(1-2):339-40. 7828904
		Putative Benign		Single nucleotide polymorphism map of five long-QT genes. J Mol Med (Berl). 2005 83(2):159-65. 15599693
		Other Cardiac Phenotype		Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064
		Benign		Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc. 2003 78(12):1479-87. 14661677