Paralogue Annotation for KCNH2 residue 578

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 578
Reference Amino Acid: H - Histidine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 578

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	G331R	Achromatopsia	Medium	9	25943428
CNGA4	G197R	Amyotrophic lateral sclerosis	Medium	9	25773295

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	V-LFLLMCTFALIAHWLACIWYAIGNMEQP>H<MDSR----IGWLHNLGDQIGKPYNSS----	600
KCNH1	V-LVLLVCVFGLAAHWMACIWYSIGDYEIF>D<EDTKTIRNNSWLYQLAMDIGTPYQFN----	433
KCNH3	V-LTLLMAVFALLAHWVACVWFYIGQREIE>S<SESELPE-IGWLQELARRLETPYYLVGRRP	417
KCNH4	V-LTLLMSVFALLAHWMACIWYVIGRREME>A<NDPLLWD-IGWLHELGKRLEVPYVNG----	415
KCNH5	V-LVLLVCVFGLVAHWLACIWYSIGDYEVI>D<EVTNTIQIDSWLYQLALSIGTPYRYN----	403
KCNH6	V-LFLLMCTFALIAHWLACIWYAIGNVERP>Y<LEHK----IGWLDSLGVQLGKRYNGS----	451
KCNH7	V-LMLLMCIFALIAHWLACIWYAIGNVERP>Y<LTDK----IGWLDSLGQQIGKRYNDS----	602
KCNH8	V-LTLLMSMFALLAHWMACIWYVIGKMERE>D<NSLLKWE-VGWLHELGKRLESPYYGNN---	410
CNGA1	FRISNLVMYIVIIIHWNACVFYSISKAIGF>G<ND-------TWVYPD---INDP--------	340
CNGA2	FRISNLVLYILVIIHWNACIYYAISKSIGF>G<VD-------TWVYPN---ITDP--------	315
CNGA3	FRIGNLVLYILIIIHWNACIYFAISKFIGF>G<TD-------SWVYPN---ISIP--------	343
CNGA4	FRIAKLMLYIFVVIHWNSCLYFALSRYLGF>G<RD-------AWVYPD---PAQP--------	209
CNGB1	YRVIRTTAYLLYSLHLNSCLYYWASAYQGL>G<ST-------HWVYD----------------	826
CNGB3	YRVIRTTGYLLFILHINACVYYWASNYEGI>G<TT-------RWVYD----------------	388
HCN1	VRIFNLIGMMLLLCHWDGCLQFLVPLLQDF>P<PD-------CWVS-----LNEM--------	336
HCN2	MRICNLISMMLLLCHWDGCLQFLVPMLQDF>P<RN-------CWVS-----INGM--------	405
HCN3	VRIFNLIGMMLLLCHWDGCLQFLVPMLQDF>P<PD-------CWVS-----INHM--------	289
HCN4	VRIVNLIGMMLLLCHWDGCLQFLVPMLQDF>P<DD-------CWVS-----INNM--------	456
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See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.His578Pro	c.1733A>C	Unknown			SIFT: Polyphen: