Paralogue Annotation for KCNH2 residue 779

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 779
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 779

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3M519TCone-rod dystrophyMedium9 26992781

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.



KCNH2GCLRALAMKFKTTHAPPGDTLVHAGDLLTA>L<YFISRGSIEILRG-D--V--VVAILGKNDI804
KCNH1GCLRALAMEFQTVHCAPGDLIYHAGESVDS>L<CFVVSGSLEVIQD-D--E--VVAILGKGDV643
KCNH3GCLRALSLALRPAFCTPGEYLIHQGDALQA>L<YFVCSGSMEVLKG-G--T--VLAILGKGDL644
KCNH4GCLRALSLHIKTSFCAPGEYLLRRGDALQA>H<YYVCSGSLEVLRD-N--M--VLAILGKGDL618
KCNH5GCLRALAVEFQTIHCAPGDLIYHAGESVDA>L<CFVVSGSLEVIQD-D--E--VVAILGKGDV612
KCNH6GCLRALAVKFKTTHAPPGDTLVHLGDVLST>L<YFISRGSIEILRD-D--V--VVAILGKNDI656
KCNH7GCLRALAMKFKTTHAPPGDTLVHCGDVLTA>L<YFLSRGSIEILKD-D--I--VVAILGKNDI807
KCNH8GCLRSLSLHIKTSFCAPGEYLLRQGDALQA>I<YFVCSGSMEVLKD-S--M--VLAILGKGDL613
CNGA1GLLVELVLKLQPQVYSPGDYICKKGDIGRE>M<YIIKEGKLAVVAD-D--GVTQFVVLSDGSY543
CNGA2GLLVELVLKLRPQVFSPGDYICRKGDIGKE>M<YIIKEGKLAVVAD-D--GVTQYALLSAGSC518
CNGA3GLLVELVLKLRPTVFSPGDYICKKGDIGKE>M<YIINEGKLAVVAD-D--GVTQFVVLSDGSY546
CNGA4SLLEELVLKLQPQTYSPGEYVCRKGDIGQE>M<YIIREGQLAVVAD-D--GITQYAVLGAGLY412
CNGB1QMIFDMLKRLRSVVYLPNDYVCKKGEIGRE>M<YIIQAGQVQVLGGPDGKS--VLVTLKAGSV1027
CNGB3QMIYDMLLRLKSVLYLPGDFVCKKGEIGKE>M<YIIKHGEVQVLGGPDGTK--VLVTLKAGSV589
HCN1NFVTAMLSKLRFEVFQPGDYIIREGAVGKK>M<YFIQHGVAGVITK-S--S--KEMKLTDGSY537
HCN2NFVTAMLTKLKFEVFQPGDYIIREGTIGKK>M<YFIQHGVVSVLTK-G--N--KEMKLSDGSY606
HCN3SFVTAVLTKLRFEVFQPGDLVVREGSVGRK>M<YFIQHGLLSVLAR-G--A--RDTRLTDGSY490
HCN4NFVTSMLTKLRFEVFQPGDYIIREGTIGKK>M<YFIQHGVVSVLTK-G--N--KETKLADGSY657
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 779 for KCNH2.