Paralogue Annotation for KCNH2 residue 799

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 799
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 799

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3L541FAchromatopsiaHigh7 24504161

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.



KCNH2DLLTALYFISRGSIEILRG-D--V--VVAI>L<GKNDIFGEPLNLYAR------P----GKSN819
KCNH1ESVDSLCFVVSGSLEVIQD-D--E--VVAI>L<GKGDVFGDVFWKEAT------L----AQSC658
KCNH3DALQALYFVCSGSMEVLKG-G--T--VLAI>L<GKGDLIGCELPRREQ------V----VKAN659
KCNH4DALQAHYYVCSGSLEVLRD-N--M--VLAI>L<GKGDLIGADIPEPGQEPGLGADPNFVLKTS643
KCNH5ESVDALCFVVSGSLEVIQD-D--E--VVAI>L<GKGDVFGDIFWKETT------L----AHAC627
KCNH6DVLSTLYFISRGSIEILRD-D--V--VVAI>L<GKNDIFGEPVSLHAQ------P----GKSS671
KCNH7DVLTALYFLSRGSIEILKD-D--I--VVAI>L<GKNDIFGEMVHLYAK------P----GKSN822
KCNH8DALQAIYFVCSGSMEVLKD-S--M--VLAI>L<GKGDLIGANLSIKDQ------V----IKTN628
CNGA1DIGREMYIIKEGKLAVVAD-D--GVTQFVV>L<SDGSYFGEISILNIKGSKA--G----NRRT562
CNGA2DIGKEMYIIKEGKLAVVAD-D--GVTQYAL>L<SAGSCFGEISILNIKGSKM--G----NRRT537
CNGA3DIGKEMYIINEGKLAVVAD-D--GVTQFVV>L<SDGSYFGEISILNIKGSKS--G----NRRT565
CNGA4DIGQEMYIIREGQLAVVAD-D--GITQYAV>L<GAGLYFGEISIINIKGNMS--G----NRRT431
CNGB1EIGREMYIIQAGQVQVLGGPDGKS--VLVT>L<KAGSVFGEISLLAVGG-----G----NRRT1043
CNGB3EIGKEMYIIKHGEVQVLGGPDGTK--VLVT>L<KAGSVFGEISLLAAGG-----G----NRRT605
HCN1AVGKKMYFIQHGVAGVITK-S--S--KEMK>L<TDGSYFGEICLLTKG------------RRT550
HCN2TIGKKMYFIQHGVVSVLTK-G--N--KEMK>L<SDGSYFGEICLLTRG------------RRT619
HCN3SVGRKMYFIQHGLLSVLAR-G--A--RDTR>L<TDGSYFGEICLLTRG------------RRT503
HCN4TIGKKMYFIQHGVVSVLTK-G--N--KETK>L<ADGSYFGEICLLTRG------------RRT670
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Leu799Proc.2396T>C UnknownSIFT:
Polyphen: