Paralogue Annotation for KCNH2 residue 530

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 530
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 530

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
HCN1S272PEpileptic encephalopathy, early infantileMedium6 24747641, 24747641

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--------------------LIGLLKTARL>L<RLVRVARKLDRY-----SEYGAAV-LFLLM554
KCNH1DQ---IPPPLEGRESQGISSLFSSLKVVRL>L<RLGRVARKLDHY-----IEYGAAV-LVLLV383
KCNH3-V---Y-------------FGAHLLKTVRL>L<RLLRLLPRLDRY-----SQYSAVV-LTLLM364
KCNH4-V---T-------------SLVHLLKTVRL>L<RLLRLLQKLERY-----SQCSAVV-LTLLM366
KCNH5-----------------ISSLFSSLKVVRL>L<RLGRVARKLDHY-----LEYGAAV-LVLLV353
KCNH6-T---T-------------TLIGLLKTARL>L<RLVRVARKLDRY-----SEYGAAV-LFLLM405
KCNH7-T---T-------------TLIGLLKTARL>L<RLVRVARKLDRY-----SEYGAAV-LMLLM556
KCNH8-V---V-------------SLVHLLKTVRL>L<RLLRLLQKLDRY-----SQHSTIV-LTLLM360
CNGA1-------------------PEIRLNRLLRF>S<RMFEFFQRTETR-----TNYPNIFRISNLV304
CNGA2-------------------PEVRFNRLLHF>A<RMFEFFDRTETR-----TNYPNIFRISNLV279
CNGA3-------------------PEVRFNRLLKF>S<RLFEFFDRTETR-----TNYPNMFRIGNLV307
CNGA4-------------------PTLRLNRFLRA>P<RLFEAFDRTETR-----TAYPNAFRIAKLM173
CNGB1-------------------PLLRLPRCLKY>M<AFFEFNSRLESI-----LSKAYVYRVIRTT795
CNGB3-------------------PMFRANRMLKY>T<SFFEFNHHLESI-----MDKAYIYRVIRTT357
HCN1-IVRFT-------------KILSLLRLLRL>S<RLIRYIHQWEEIFHMTYDLASAVVRIFNLI302
HCN2-IVRFT-------------KILSLLRLLRL>S<RLIRYIHQWEEIFHMTYDLASAVMRICNLI371
HCN3-IVRFT-------------KILSLLRLLRL>S<RLIRYIHQWEEIFHMTYDLASAVVRIFNLI255
HCN4-IVRFT-------------KILSLLRLLRL>S<RLIRYIHQWEEIFHMTYDLASAVVRIVNLI422
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 530 for KCNH2.