Paralogue Annotation for KCNH2 residue 770

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 770
Reference Amino Acid: V - Valine
Protein Domain: C-terminus

Paralogue Variants mapped to KCNH2 residue 770

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	C510S	Colour-blindness, total	Medium	9	11536077

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	CKPFRGATKGCLRALAMKFKTTHAPPGDTL>V<HAGDLLTALYFISRGSIEILRG-D--V--V	795
KCNH1	HPAFRLASDGCLRALAMEFQTVHCAPGDLI>Y<HAGESVDSLCFVVSGSLEVIQD-D--E--V	634
KCNH3	LPLFEAASRGCLRALSLALRPAFCTPGEYL>I<HQGDALQALYFVCSGSMEVLKG-G--T--V	635
KCNH4	LPLFGAASRGCLRALSLHIKTSFCAPGEYL>L<RRGDALQAHYYVCSGSLEVLRD-N--M--V	609
KCNH5	HPAFRLASDGCLRALAVEFQTIHCAPGDLI>Y<HAGESVDALCFVVSGSLEVIQD-D--E--V	603
KCNH6	CPAFSGAGKGCLRALAVKFKTTHAPPGDTL>V<HLGDVLSTLYFISRGSIEILRD-D--V--V	647
KCNH7	CKAFRGASKGCLRALAMKFKTTHAPPGDTL>V<HCGDVLTALYFLSRGSIEILKD-D--I--V	798
KCNH8	LSLFECASRGCLRSLSLHIKTSFCAPGEYL>L<RQGDALQAIYFVCSGSMEVLKD-S--M--V	604
CNGA1	VRIFADCEAGLLVELVLKLQPQVYSPGDYI>C<KKGDIGREMYIIKEGKLAVVAD-D--GVTQ	534
CNGA2	VRIFHDCEAGLLVELVLKLRPQVFSPGDYI>C<RKGDIGKEMYIIKEGKLAVVAD-D--GVTQ	509
CNGA3	VRIFQDCEAGLLVELVLKLRPTVFSPGDYI>C<KKGDIGKEMYIINEGKLAVVAD-D--GVTQ	537
CNGA4	VQIFQNCEASLLEELVLKLQPQTYSPGEYV>C<RKGDIGQEMYIIREGQLAVVAD-D--GITQ	403
CNGB1	VALFQGCDRQMIFDMLKRLRSVVYLPNDYV>C<KKGEIGREMYIIQAGQVQVLGGPDGKS--V	1018
CNGB3	VDLFKGCDTQMIYDMLLRLKSVLYLPGDFV>C<KKGEIGKEMYIIKHGEVQVLGGPDGTK--V	580
HCN1	MPLFANADPNFVTAMLSKLRFEVFQPGDYI>I<REGAVGKKMYFIQHGVAGVITK-S--S--K	528
HCN2	MPLFANADPNFVTAMLTKLKFEVFQPGDYI>I<REGTIGKKMYFIQHGVVSVLTK-G--N--K	597
HCN3	MPLFAHADPSFVTAVLTKLRFEVFQPGDLV>V<REGSVGRKMYFIQHGLLSVLAR-G--A--R	481
HCN4	MPLFANADPNFVTSMLTKLRFEVFQPGDYI>I<REGTIGKKMYFIQHGVVSVLTK-G--N--K	648
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V770A	c.2309T>C	Inherited Arrhythmia	LQTS	rs199472994	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
		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