Paralogue Annotation for KCNH2 residue 919

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 919
Reference Amino Acid: S - Serine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 919

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA1E663GRetinitis pigmentosa, autosomal recessiveLow2 24265693

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.



KCNH2DKDT--EQ-----PGEVSALGPGRAGAGPS>S<RGRPGG---P--WGESPSSGPSS-------937
KCNH1PVRRLFQRF-----RQQKEARL-AAERGGR>D<LDDLDV---E--KGNVLTEHASA-------778
KCNH3LMSTLEEKE-----TDGEQG---P-TVSPA>P<ADEPSS---P--LLSPGCTSSSSAAKLLSP770
KCNH4TLPSITEAE-----SGAEPGGGPRPR-RPL>L<LPNLSP---A--RPR--GSLVSLLGEELPP768
KCNH5PVRKLFQKF-----KQQKELRNQGSTQGDP>E<RNQLQV---E--SRSLQNGASIT-------748
KCNH6GSPH--ELGPQFPSKGYSLLGPGSQNSMG->-<----AG---P--CAPG-HPDAAP-------784
KCNH7EKE-------------NSTNDPEDSADTIR>H<YQSSKR---H--FEEKKSRSSSF-------937
KCNH8RLPSIVEDE-----EEEEEGEEEEAVSLSP>I<CTRGSS---S--RNKKVGSNKAYLGLSLKQ755
CNGA1QTRFARILA-----EYESMQQKLKQRLTKV>E<KFLKP-----LIDTEFSSIEGPG-------681
CNGA2YTRFGRLLA-----EYTGAQQKLKQRITVL>E<TKMKQ-----NNEDDYLSDGMNS-------655
CNGA3QTRFARLLA-----EYNATQMKMKQRLSQL>E<SQVKG-----GG-DKPLADGEVPG------684
CNGA4QTKFARLLA-----ELESSALKIAYRIERL>E<WQTREW---PMPEDLAEADDEGE-------553
CNGB1GGKGAKGGK-----LAHLRARLKELAALEA>A<AKQQEL---V--EQAKSSQDVKGE------1164
CNGB3SL-----------------ARLLKLKREQA>A<QKKENSEGGE--EEGKENEDKQKE------722
HCN1IVKHDREMV-----QAIAPINYPQMTTLNS>T<SSTTTP---T--SRMRTQSPPVYT------669
HCN2IVKYDREMV-----QQAELGQRVGLFPPPP>P<PPQVTS---A--IATLQQAAAMSF------738
HCN3LVQHDRDMA-----RGVRGRAPSTGAQLSG>K<PVLWEP---L--VHAPLQAAAVTS------618
HCN4IVQHDREMA-----HCAHRVQAAASATPTP>T<PVIWTP---L--IQAPLQAAAATT------789
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 919 for KCNH2.