Paralogue Annotation for KCNH2 residue 570

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 570
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 570

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA1S320FRetinitis pigmentosaMedium9 7479749, 22995991, 24265693
CNGA3A323DAchromatopsiaHigh9 26493561

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--SEYGAAV-LFLLMCTFALIAHWLACIWY>A<IGNMEQPHMDSR----IGWLHNLGDQIGKP596
KCNH1--IEYGAAV-LVLLVCVFGLAAHWMACIWY>S<IGDYEIFDEDTKTIRNNSWLYQLAMDIGTP429
KCNH3--SQYSAVV-LTLLMAVFALLAHWVACVWF>Y<IGQREIESSESELPE-IGWLQELARRLETP409
KCNH4--SQCSAVV-LTLLMSVFALLAHWMACIWY>V<IGRREMEANDPLLWD-IGWLHELGKRLEVP411
KCNH5--LEYGAAV-LVLLVCVFGLVAHWLACIWY>S<IGDYEVIDEVTNTIQIDSWLYQLALSIGTP399
KCNH6--SEYGAAV-LFLLMCTFALIAHWLACIWY>A<IGNVERPYLEHK----IGWLDSLGVQLGKR447
KCNH7--SEYGAAV-LMLLMCIFALIAHWLACIWY>A<IGNVERPYLTDK----IGWLDSLGQQIGKR598
KCNH8--SQHSTIV-LTLLMSMFALLAHWMACIWY>V<IGKMEREDNSLLKWE-VGWLHELGKRLESP405
CNGA1--TNYPNIFRISNLVMYIVIIIHWNACVFY>S<ISKAIGFGND-------TWVYPD---INDP340
CNGA2--TNYPNIFRISNLVLYILVIIHWNACIYY>A<ISKSIGFGVD-------TWVYPN---ITDP315
CNGA3--TNYPNMFRIGNLVLYILIIIHWNACIYF>A<ISKFIGFGTD-------SWVYPN---ISIP343
CNGA4--TAYPNAFRIAKLMLYIFVVIHWNSCLYF>A<LSRYLGFGRD-------AWVYPD---PAQP209
CNGB1--LSKAYVYRVIRTTAYLLYSLHLNSCLYY>W<ASAYQGLGST-------HWVYD--------826
CNGB3--MDKAYIYRVIRTTGYLLFILHINACVYY>W<ASNYEGIGTT-------RWVYD--------388
HCN1TYDLASAVVRIFNLIGMMLLLCHWDGCLQF>L<VPLLQDFPPD-------CWVS-----LNEM336
HCN2TYDLASAVMRICNLISMMLLLCHWDGCLQF>L<VPMLQDFPRN-------CWVS-----INGM405
HCN3TYDLASAVVRIFNLIGMMLLLCHWDGCLQF>L<VPMLQDFPPD-------CWVS-----INHM289
HCN4TYDLASAVVRIVNLIGMMLLLCHWDGCLQF>L<VPMLQDFPDD-------CWVS-----INNM456
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 570 for KCNH2.