Paralogue Annotation for KCNH2 residue 363

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 363
Reference Amino Acid: I - Isoleucine
Protein Domain: N-terminus


Paralogue Variants mapped to KCNH2 residue 363

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
HCN1S100FEpileptic encephalopathy, early infantileMedium2 24747641, 24747641
CNGA3N120DCone dystrophyMedium2 24903488

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.



KCNH2TLNFVDLKGDPFLASP-T-SDREII-AP-K>I<K-E--R-THNV-TEKVTQVL---SLGADVL385
KCNH1-------RLTRALTSS-R-GVLQQL-APS->V<QKG--E-NVHK-HSRLAEVL---QLGSDIL195
KCNH3------KGFNANRRRS-R-AVLYHL-SGH->L<QK---Q-PKG--KHKLNKGV---FGEKPNL202
KCNH4-----TWKFRSARRRS-R-TVLHRL-TGH->F<GR---R-GQG--GMKANNNV---FEPKPSV204
KCNH5-------RLTRALTNS-R-SVLQQL-TPM->N<KT---E-VVHK-HSRLAEVL---QLGSDIL192
KCNH6TLNFVEFNLEKHRSSS-T-TEIEII-APHK>V<V-E--R-TQNV-TEKVTQVL---SLGADVL234
KCNH7TLNFSEVKTEKKNSSPPS-SDKTII-AP-K>V<K-D--R-THNV-TEKVTQVL---SLGADVL385
KCNH8-----GTHFDSARRRS-R-AVLYHI-SGH->L<QR---R-EKN--KLKINNNV---FVDKPAF199
CNGA1---KKK-KKKEKKSKS-D-DKNENKNDPE->K<K------------K-KKKD-KEKKKK--EE142
CNGA2---FLE-RFRGPELQT-V-TTQEGDGKG-->D<-----------------------------K117
CNGA3---FPD-RFRGAELKE-V-SSQESNAQ-A->N<VGS--QEPADRGRS-AWPLAKCNTNTSNN-146
CNGA4------------KVKT-T-ES--------->-<------------------------------12
CNGB1IDPDVTSDEE-SPKPSPA-KKAPEP-APD->T<KPAEAE-PVEE-EHYCDMLC----CKFKHR637
CNGB3VEGDLSS-----PEASPQ-TAKPTA-VPP->V<KES--D-DKPT-EHYYRLLW----FKVKKM195
HCN1-------EDAEGPR-R-QYGFMQRQ--FT->S<M----L-QPGV-NKF-SLRM---FGSQKAV120
HCN2-------PAGEPRG-S-QASFMQRQ--FG->A<L----L-QPGV-NKF-SLRM---FGSQKAV189
HCN3-------PE------P-----KRRH--LG->T<L----L-QPTV-NKF-SLRV---FGSHKAV71
HCN4-------PEAEVRL-G-QAGFMQRQ--FG->A<M----L-QPGV-NKF-SLRM---FGSQKAV240
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 363 for KCNH2.