Paralogue Annotation for KCNH2 residue 576

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 576
Reference Amino Acid: Q - Glutamine
Protein Domain: Transmembrane/Linker/Pore

Paralogue Variants mapped to KCNH2 residue 576

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CNGA3	G329C	Achromatopsia	Medium	9	21778272

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	AAV-LFLLMCTFALIAHWLACIWYAIGNME>Q<PHMDSR----IGWLHNLGDQIGKPYNSS--	600
KCNH1	AAV-LVLLVCVFGLAAHWMACIWYSIGDYE>I<FDEDTKTIRNNSWLYQLAMDIGTPYQFN--	433
KCNH3	AVV-LTLLMAVFALLAHWVACVWFYIGQRE>I<ESSESELPE-IGWLQELARRLETPYYLVGR	415
KCNH4	AVV-LTLLMSVFALLAHWMACIWYVIGRRE>M<EANDPLLWD-IGWLHELGKRLEVPYVNG--	415
KCNH5	AAV-LVLLVCVFGLVAHWLACIWYSIGDYE>V<IDEVTNTIQIDSWLYQLALSIGTPYRYN--	403
KCNH6	AAV-LFLLMCTFALIAHWLACIWYAIGNVE>R<PYLEHK----IGWLDSLGVQLGKRYNGS--	451
KCNH7	AAV-LMLLMCIFALIAHWLACIWYAIGNVE>R<PYLTDK----IGWLDSLGQQIGKRYNDS--	602
KCNH8	TIV-LTLLMSMFALLAHWMACIWYVIGKME>R<EDNSLLKWE-VGWLHELGKRLESPYYGNN-	410
CNGA1	NIFRISNLVMYIVIIIHWNACVFYSISKAI>G<FGND-------TWVYPD---INDP------	340
CNGA2	NIFRISNLVLYILVIIHWNACIYYAISKSI>G<FGVD-------TWVYPN---ITDP------	315
CNGA3	NMFRIGNLVLYILIIIHWNACIYFAISKFI>G<FGTD-------SWVYPN---ISIP------	343
CNGA4	NAFRIAKLMLYIFVVIHWNSCLYFALSRYL>G<FGRD-------AWVYPD---PAQP------	209
CNGB1	YVYRVIRTTAYLLYSLHLNSCLYYWASAYQ>G<LGST-------HWVYD--------------	826
CNGB3	YIYRVIRTTGYLLFILHINACVYYWASNYE>G<IGTT-------RWVYD--------------	388
HCN1	AVVRIFNLIGMMLLLCHWDGCLQFLVPLLQ>D<FPPD-------CWVS-----LNEM------	336
HCN2	AVMRICNLISMMLLLCHWDGCLQFLVPMLQ>D<FPRN-------CWVS-----INGM------	405
HCN3	AVVRIFNLIGMMLLLCHWDGCLQFLVPMLQ>D<FPPD-------CWVS-----INHM------	289
HCN4	AVVRIVNLIGMMLLLCHWDGCLQFLVPMLQ>D<FPDD-------CWVS-----INNM------	456
cons	> <

See full Alignment of Paralogues

Known Variants in KCNH2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q576K	c.1726C>A	Putative Benign			SIFT: Polyphen: