Paralogue Annotation for KCNH2 residue 577

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 577
Reference Amino Acid: P - Proline
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 577

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3F330SCone dystrophyMedium9 24903488

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.



KCNH2AV-LFLLMCTFALIAHWLACIWYAIGNMEQ>P<HMDSR----IGWLHNLGDQIGKPYNSS---600
KCNH1AV-LVLLVCVFGLAAHWMACIWYSIGDYEI>F<DEDTKTIRNNSWLYQLAMDIGTPYQFN---433
KCNH3VV-LTLLMAVFALLAHWVACVWFYIGQREI>E<SSESELPE-IGWLQELARRLETPYYLVGRR416
KCNH4VV-LTLLMSVFALLAHWMACIWYVIGRREM>E<ANDPLLWD-IGWLHELGKRLEVPYVNG---415
KCNH5AV-LVLLVCVFGLVAHWLACIWYSIGDYEV>I<DEVTNTIQIDSWLYQLALSIGTPYRYN---403
KCNH6AV-LFLLMCTFALIAHWLACIWYAIGNVER>P<YLEHK----IGWLDSLGVQLGKRYNGS---451
KCNH7AV-LMLLMCIFALIAHWLACIWYAIGNVER>P<YLTDK----IGWLDSLGQQIGKRYNDS---602
KCNH8IV-LTLLMSMFALLAHWMACIWYVIGKMER>E<DNSLLKWE-VGWLHELGKRLESPYYGNN--410
CNGA1IFRISNLVMYIVIIIHWNACVFYSISKAIG>F<GND-------TWVYPD---INDP-------340
CNGA2IFRISNLVLYILVIIHWNACIYYAISKSIG>F<GVD-------TWVYPN---ITDP-------315
CNGA3MFRIGNLVLYILIIIHWNACIYFAISKFIG>F<GTD-------SWVYPN---ISIP-------343
CNGA4AFRIAKLMLYIFVVIHWNSCLYFALSRYLG>F<GRD-------AWVYPD---PAQP-------209
CNGB1VYRVIRTTAYLLYSLHLNSCLYYWASAYQG>L<GST-------HWVYD---------------826
CNGB3IYRVIRTTGYLLFILHINACVYYWASNYEG>I<GTT-------RWVYD---------------388
HCN1VVRIFNLIGMMLLLCHWDGCLQFLVPLLQD>F<PPD-------CWVS-----LNEM-------336
HCN2VMRICNLISMMLLLCHWDGCLQFLVPMLQD>F<PRN-------CWVS-----INGM-------405
HCN3VVRIFNLIGMMLLLCHWDGCLQFLVPMLQD>F<PPD-------CWVS-----INHM-------289
HCN4VVRIVNLIGMMLLLCHWDGCLQFLVPMLQD>F<PDD-------CWVS-----INNM-------456
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 577 for KCNH2.