Paralogue Annotation for KCNH2 residue 782

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 782
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 782

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3I522TColour-blindness, totalHigh9 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.



KCNH2RALAMKFKTTHAPPGDTLVHAGDLLTALYF>I<SRGSIEILRG-D--V--VVAILGKNDIFGE807
KCNH1RALAMEFQTVHCAPGDLIYHAGESVDSLCF>V<VSGSLEVIQD-D--E--VVAILGKGDVFGD646
KCNH3RALSLALRPAFCTPGEYLIHQGDALQALYF>V<CSGSMEVLKG-G--T--VLAILGKGDLIGC647
KCNH4RALSLHIKTSFCAPGEYLLRRGDALQAHYY>V<CSGSLEVLRD-N--M--VLAILGKGDLIGA621
KCNH5RALAVEFQTIHCAPGDLIYHAGESVDALCF>V<VSGSLEVIQD-D--E--VVAILGKGDVFGD615
KCNH6RALAVKFKTTHAPPGDTLVHLGDVLSTLYF>I<SRGSIEILRD-D--V--VVAILGKNDIFGE659
KCNH7RALAMKFKTTHAPPGDTLVHCGDVLTALYF>L<SRGSIEILKD-D--I--VVAILGKNDIFGE810
KCNH8RSLSLHIKTSFCAPGEYLLRQGDALQAIYF>V<CSGSMEVLKD-S--M--VLAILGKGDLIGA616
CNGA1VELVLKLQPQVYSPGDYICKKGDIGREMYI>I<KEGKLAVVAD-D--GVTQFVVLSDGSYFGE546
CNGA2VELVLKLRPQVFSPGDYICRKGDIGKEMYI>I<KEGKLAVVAD-D--GVTQYALLSAGSCFGE521
CNGA3VELVLKLRPTVFSPGDYICKKGDIGKEMYI>I<NEGKLAVVAD-D--GVTQFVVLSDGSYFGE549
CNGA4EELVLKLQPQTYSPGEYVCRKGDIGQEMYI>I<REGQLAVVAD-D--GITQYAVLGAGLYFGE415
CNGB1FDMLKRLRSVVYLPNDYVCKKGEIGREMYI>I<QAGQVQVLGGPDGKS--VLVTLKAGSVFGE1030
CNGB3YDMLLRLKSVLYLPGDFVCKKGEIGKEMYI>I<KHGEVQVLGGPDGTK--VLVTLKAGSVFGE592
HCN1TAMLSKLRFEVFQPGDYIIREGAVGKKMYF>I<QHGVAGVITK-S--S--KEMKLTDGSYFGE540
HCN2TAMLTKLKFEVFQPGDYIIREGTIGKKMYF>I<QHGVVSVLTK-G--N--KEMKLSDGSYFGE609
HCN3TAVLTKLRFEVFQPGDLVVREGSVGRKMYF>I<QHGLLSVLAR-G--A--RDTRLTDGSYFGE493
HCN4TSMLTKLRFEVFQPGDYIIREGTIGKKMYF>I<QHGVVSVLTK-G--N--KETKLADGSYFGE660
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 782 for KCNH2.