Paralogue Annotation for KCNH2 residue 789

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 789
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 789

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	V529M	Colour-blindness, total	Medium	9	9662398, 26992781

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 KCNH2.

KCNH2	KTTHAPPGDTLVHAGDLLTALYFISRGSIE>I<LRG-D--V--VVAILGKNDIFGEPLNLYAR	814
KCNH1	QTVHCAPGDLIYHAGESVDSLCFVVSGSLE>V<IQD-D--E--VVAILGKGDVFGDVFWKEAT	653
KCNH3	RPAFCTPGEYLIHQGDALQALYFVCSGSME>V<LKG-G--T--VLAILGKGDLIGCELPRREQ	654
KCNH4	KTSFCAPGEYLLRRGDALQAHYYVCSGSLE>V<LRD-N--M--VLAILGKGDLIGADIPEPGQ	628
KCNH5	QTIHCAPGDLIYHAGESVDALCFVVSGSLE>V<IQD-D--E--VVAILGKGDVFGDIFWKETT	622
KCNH6	KTTHAPPGDTLVHLGDVLSTLYFISRGSIE>I<LRD-D--V--VVAILGKNDIFGEPVSLHAQ	666
KCNH7	KTTHAPPGDTLVHCGDVLTALYFLSRGSIE>I<LKD-D--I--VVAILGKNDIFGEMVHLYAK	817
KCNH8	KTSFCAPGEYLLRQGDALQAIYFVCSGSME>V<LKD-S--M--VLAILGKGDLIGANLSIKDQ	623
CNGA1	QPQVYSPGDYICKKGDIGREMYIIKEGKLA>V<VAD-D--GVTQFVVLSDGSYFGEISILNIK	553
CNGA2	RPQVFSPGDYICRKGDIGKEMYIIKEGKLA>V<VAD-D--GVTQYALLSAGSCFGEISILNIK	528
CNGA3	RPTVFSPGDYICKKGDIGKEMYIINEGKLA>V<VAD-D--GVTQFVVLSDGSYFGEISILNIK	556
CNGA4	QPQTYSPGEYVCRKGDIGQEMYIIREGQLA>V<VAD-D--GITQYAVLGAGLYFGEISIINIK	422
CNGB1	RSVVYLPNDYVCKKGEIGREMYIIQAGQVQ>V<LGGPDGKS--VLVTLKAGSVFGEISLLAVG	1037
CNGB3	KSVLYLPGDFVCKKGEIGKEMYIIKHGEVQ>V<LGGPDGTK--VLVTLKAGSVFGEISLLAAG	599
HCN1	RFEVFQPGDYIIREGAVGKKMYFIQHGVAG>V<ITK-S--S--KEMKLTDGSYFGEICLLTKG	547
HCN2	KFEVFQPGDYIIREGTIGKKMYFIQHGVVS>V<LTK-G--N--KEMKLSDGSYFGEICLLTRG	616
HCN3	RFEVFQPGDLVVREGSVGRKMYFIQHGLLS>V<LAR-G--A--RDTRLTDGSYFGEICLLTRG	500
HCN4	RFEVFQPGDYIIREGTIGKKMYFIQHGVVS>V<LTK-G--N--KETKLADGSYFGEICLLTRG	667
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I789T	c.2366T>C	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487