Paralogue Annotation for KCNH2 residue 886

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 886
Reference Amino Acid: K - Lysine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 886

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3L633PAchromatopsiaLow2 16961972, 23552282

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.



KCNH2IP-GSP---GSTELE--------GGFSRQR>K<RKLSFRRRTDKDT--EQ-----PGEVSALG909
KCNH1FRKISD---VKREEE--------ERMKRKN>E<APLILPPDHPVRRLFQRF-----RQQKEAR751
KCNH3SAEVDT-----SSLS------------G-->-<----D--NTLMSTLEEKE-----TDGEQG-738
KCNH4TSGLSR-----FSRS--------PRLSQPR>S<ESLGSSSDKTLPSITEAE-----SGAEPGG736
KCNH5FRKISD---VKKEEE--------ERLRQKN>E<VTLSIPVDHPVRKLFQKF-----KQQKELR720
KCNH6GL-------HSSPRQ--------APGSQDH>Q<GFFLSDNQSGSPH--ELGPQFPSKGYSLLG763
KCNH7KA-DLLRSQSMNDSE--------GDNCKLR>R<RKLSFESEGEKE-------------NSTND909
KCNH8SDVISR-----LSNK--------SMVSQSE>P<KGNGN-INKRLPSIVEDE-----EEEEEGE720
CNGA1ANAGSD---PKDLEE--------K---VTR>M<E--GSVDLLQTRFARILA-----EYESMQQ653
CNGA2VATS-M---EVDVQE--------K---LGQ>L<E--TNMETLYTRFGRLLA-----EYTGAQQ627
CNGA3ARAGAD---PKDLEE--------K---VEQ>L<G--SSLDTLQTRFARLLA-----EYNATQM656
CNGA4EAAEIA---LQEATE--------SR--LRG>L<D--QQLDDLQTKFARLLA-----ELESSAL523
CNGB1--EE-K-----SVLILPPRAGTPKL--FNA>A<--LAMTGKMGGKGAKGGK-----LAHLRAR1135
CNGB3PPRK-D-----LALLFPPKEETPKL--FKT>L<--LGGTGKASL-----------------AR690
HCN1LQKFQ------KDLNT-------GVFNN-Q>-<--ENEILKQIVKHDREMV-----QAIAPIN640
HCN2LHKVQ------HDLNS-------GVFNN-Q>-<--ENAIIQEIVKYDREMV-----QQAELGQ709
HCN3QRKRS------EPSPG-----------S-S>-<--GGIMEQHLVQHDRDMA-----RGVRGRA589
HCN4LHKVQ------HDLNS-------GVFNY-Q>-<--ENEIIQQIVQHDREMA-----HCAHRVQ760
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 886 for KCNH2.