Paralogue Annotation for KCNE2 residue 10

Residue details

Gene: KCNE2
Reference Sequences: LRG: LRG_291, Ensembl variant: ENST00000290310 / ENSP00000290310
Amino Acid Position: 10
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNE2 residue 10

No paralogue variants have been mapped to residue 10 for KCNE2.

KCNE2	MSTLSN---FTQ>T<LEDVFRRIFITYMDNW----RQNTTAEQEA	36
KCNE1	--MILS---NTT>A<VTPFLTKLWQE---T------VQQGGN-MS	28
KCNE3	METTNGTETWYE>S<LHAVLKALNATLHSNLLCRPGPGLGPD-NQ	42
KCNE4	------------>-<------MLKMEPLNST----HPGTAASSSP	20
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See full Alignment of Paralogues

Known Variants in KCNE2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T10M	c.29C>T	Inherited Arrhythmia	LQTS	rs199473648	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
		Other Cardiac Phenotype		A KCNE2 mutation in a patient with cardiac arrhythmia induced by auditory stimuli and serum electrolyte imbalance. Cardiovasc Res. 2008 77(1):98-106. 18006462
		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