Paralogue Annotation for KCNH2 residue 773

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 773
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 773

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3G513EColour-blindness, totalHigh9 11536077
CNGB1G993VRetinitis pigmentosa?High9 11379879
CNGA3G513RCone-rod dystrophyHigh9 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.



KCNH2FRGATKGCLRALAMKFKTTHAPPGDTLVHA>G<DLLTALYFISRGSIEILRG-D--V--VVAI798
KCNH1FRLASDGCLRALAMEFQTVHCAPGDLIYHA>G<ESVDSLCFVVSGSLEVIQD-D--E--VVAI637
KCNH3FEAASRGCLRALSLALRPAFCTPGEYLIHQ>G<DALQALYFVCSGSMEVLKG-G--T--VLAI638
KCNH4FGAASRGCLRALSLHIKTSFCAPGEYLLRR>G<DALQAHYYVCSGSLEVLRD-N--M--VLAI612
KCNH5FRLASDGCLRALAVEFQTIHCAPGDLIYHA>G<ESVDALCFVVSGSLEVIQD-D--E--VVAI606
KCNH6FSGAGKGCLRALAVKFKTTHAPPGDTLVHL>G<DVLSTLYFISRGSIEILRD-D--V--VVAI650
KCNH7FRGASKGCLRALAMKFKTTHAPPGDTLVHC>G<DVLTALYFLSRGSIEILKD-D--I--VVAI801
KCNH8FECASRGCLRSLSLHIKTSFCAPGEYLLRQ>G<DALQAIYFVCSGSMEVLKD-S--M--VLAI607
CNGA1FADCEAGLLVELVLKLQPQVYSPGDYICKK>G<DIGREMYIIKEGKLAVVAD-D--GVTQFVV537
CNGA2FHDCEAGLLVELVLKLRPQVFSPGDYICRK>G<DIGKEMYIIKEGKLAVVAD-D--GVTQYAL512
CNGA3FQDCEAGLLVELVLKLRPTVFSPGDYICKK>G<DIGKEMYIINEGKLAVVAD-D--GVTQFVV540
CNGA4FQNCEASLLEELVLKLQPQTYSPGEYVCRK>G<DIGQEMYIIREGQLAVVAD-D--GITQYAV406
CNGB1FQGCDRQMIFDMLKRLRSVVYLPNDYVCKK>G<EIGREMYIIQAGQVQVLGGPDGKS--VLVT1021
CNGB3FKGCDTQMIYDMLLRLKSVLYLPGDFVCKK>G<EIGKEMYIIKHGEVQVLGGPDGTK--VLVT583
HCN1FANADPNFVTAMLSKLRFEVFQPGDYIIRE>G<AVGKKMYFIQHGVAGVITK-S--S--KEMK531
HCN2FANADPNFVTAMLTKLKFEVFQPGDYIIRE>G<TIGKKMYFIQHGVVSVLTK-G--N--KEMK600
HCN3FAHADPSFVTAVLTKLRFEVFQPGDLVVRE>G<SVGRKMYFIQHGLLSVLAR-G--A--RDTR484
HCN4FANADPNFVTSMLTKLRFEVFQPGDYIIRE>G<TIGKKMYFIQHGVVSVLTK-G--N--KETK651
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 773 for KCNH2.