Paralogue Annotation for KCNH2 residue 998

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 998
Reference Amino Acid: F - Phenylalanine
Protein Domain: C-terminus


Paralogue Variants mapped to KCNH2 residue 998

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
HCN4G973RSudden unexpected death in epilepsyLow2 21615589

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.



KCNH2---------EKSSDTCNPLSG-AFSGVSNI>F<S-------------------------FWGD1003
KCNH1--------ECLGPKGGGGDCAK----RKSW>A<R-------------------------FKDA843
KCNH3--------LRLPPMPWNVPPDLSPRVVDGI>E<D-------------------------GCGS834
KCNH4--------LLIPPLGTFGPPDLSPRIVDGI>E<D-------------------------SGST837
KCNH5--------ADQKCLKVNSPIRMKNGNGKGW>L<R-------------------------LKNN817
KCNH6--------LEQLQAQMNRLESRVSSDLSRI>L<Q-------------------------LLQK853
KCNH7--------IDKRSHSCKDITDMRSWERENA>H<P-------------------------QPED1006
KCNH8--------LQLSTLNNAGPPDLSPRIVDGI>E<D-------------------------GNSS823
CNGA1------------------------------>-<------------------------------
CNGA2------------------------------>-<------------------------------
CNGA3------------------------------>-<------------------------------
CNGA4-----------------------E------>-<------------------------------563
CNGB1---------------------------A-->-<--------------------------TDPP1184
CNGB3---------------------------N-->-<--------------------------EDKD741
HCN1VCSPPVQSPLAARTFHYASPTASQLSLMQ->-<-------------------------QQPQ-735
HCN2AASPG------------PPPPASP------>-<---------------------------PG-782
HCN3PASPL------------VPVRAGPWASTS->-<-------------------------RLPA-673
HCN4PAPPGARGGLGLPEHFLPPPPSSRSPSSSP>G<QLGQPPGELSLGLATGPLSTPETPPRQPEP1003
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 998 for KCNH2.