Paralogue Annotation for KCNH2 residue 87

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 87
Reference Amino Acid: L - Leucine
Protein Domain: N-terminus

Paralogue Variants mapped to KCNH2 residue 87

No paralogue variants have been mapped to residue 87 for KCNH2.

KCNH2	----------------------------AL>L<---------------------------GAE	90
KCNH1	----------------------------TF>E<---------------------------NYE	91
KCNH3	----------------------------AL>D<---------------------------EHK	91
KCNH4	----------------------------AL>E<---------------------------GHQ	91
KCNH5	----------------------------TF>D<---------------------------NYE	89
KCNH6	----------------------------AL>L<---------------------------GAE	90
KCNH7	----------------------------AL>L<---------------------------GSE	90
KCNH8	----------------------------SL>E<---------------------------EKT	91
CNGA1	----------------------------SF>S<---------------------------EDD	46
CNGA2	----------------------------PH>S<---------------------------AAD	43
CNGA3	----------------------------AH>S<---------------------------SSE	40
CNGA4	------------------------------>-<------------------------------
CNGB1	----------------------------AL>E<---------------------------AQD	151
CNGB3	------------------------------>-<------------------------------
HCN1	----------------------SRDDGNSV>F<PAKASATGAGPAAAEKRLGTPPGGGGAGAK	51
HCN2	RAEALPPEAADEGGPRGRLRSRDSSCGRPG>T<PGAASTAKGSPNGECGRGEPQCSPAGPEGP	117
HCN3	------------------------------>-<------------------------------
HCN4	GEDRTPPGLAAEPERPGASAQPAASPPPPQ>Q<PPQPAS------------------------	176
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L87P	c.260T>C	Inherited Arrhythmia	LQTS	rs199473495	SIFT: deleterious Polyphen: possibly damaging
Reports		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	The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet. 2003 40(2):141-5. 12566525
		Inherited Arrhythmia	LQTS	Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
		Inherited Arrhythmia	LQTS	Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. Circ Cardiovasc Genet. 2012 5(5):519-28. doi: 10.1161/CIRCGENETICS.112.963785. 22949429
		Inherited Arrhythmia	LQTS	Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. Nat Commun. 2014 5:5535. doi: 10.1038/ncomms6535. 25417810