Paralogue Annotation for KCNH2 residue 798

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 798
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 798

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3V540IProgressive cone dystrophy ?Medium7 20079539, 26355662

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.



KCNH2GDLLTALYFISRGSIEILRG-D--V--VVA>I<LGKNDIFGEPLNLYAR------P----GKS818
KCNH1GESVDSLCFVVSGSLEVIQD-D--E--VVA>I<LGKGDVFGDVFWKEAT------L----AQS657
KCNH3GDALQALYFVCSGSMEVLKG-G--T--VLA>I<LGKGDLIGCELPRREQ------V----VKA658
KCNH4GDALQAHYYVCSGSLEVLRD-N--M--VLA>I<LGKGDLIGADIPEPGQEPGLGADPNFVLKT642
KCNH5GESVDALCFVVSGSLEVIQD-D--E--VVA>I<LGKGDVFGDIFWKETT------L----AHA626
KCNH6GDVLSTLYFISRGSIEILRD-D--V--VVA>I<LGKNDIFGEPVSLHAQ------P----GKS670
KCNH7GDVLTALYFLSRGSIEILKD-D--I--VVA>I<LGKNDIFGEMVHLYAK------P----GKS821
KCNH8GDALQAIYFVCSGSMEVLKD-S--M--VLA>I<LGKGDLIGANLSIKDQ------V----IKT627
CNGA1GDIGREMYIIKEGKLAVVAD-D--GVTQFV>V<LSDGSYFGEISILNIKGSKA--G----NRR561
CNGA2GDIGKEMYIIKEGKLAVVAD-D--GVTQYA>L<LSAGSCFGEISILNIKGSKM--G----NRR536
CNGA3GDIGKEMYIINEGKLAVVAD-D--GVTQFV>V<LSDGSYFGEISILNIKGSKS--G----NRR564
CNGA4GDIGQEMYIIREGQLAVVAD-D--GITQYA>V<LGAGLYFGEISIINIKGNMS--G----NRR430
CNGB1GEIGREMYIIQAGQVQVLGGPDGKS--VLV>T<LKAGSVFGEISLLAVGG-----G----NRR1042
CNGB3GEIGKEMYIIKHGEVQVLGGPDGTK--VLV>T<LKAGSVFGEISLLAAGG-----G----NRR604
HCN1GAVGKKMYFIQHGVAGVITK-S--S--KEM>K<LTDGSYFGEICLLTKG------------RR549
HCN2GTIGKKMYFIQHGVVSVLTK-G--N--KEM>K<LSDGSYFGEICLLTRG------------RR618
HCN3GSVGRKMYFIQHGLLSVLAR-G--A--RDT>R<LTDGSYFGEICLLTRG------------RR502
HCN4GTIGKKMYFIQHGVVSVLTK-G--N--KET>K<LADGSYFGEICLLTRG------------RR669
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 798 for KCNH2.