Paralogue Annotation for KCNH2 residue 524

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 524
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 524

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3N276SAchromatopsiaMedium6 21912902

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--------------------------LIGL>L<KTARLLRLVRVARKLDRY-----SEYGAAV549
KCNH1GKIGFADQ---IPPPLEGRESQGISSLFSS>L<KVVRLLRLGRVARKLDHY-----IEYGAAV378
KCNH3-------V---Y-------------FGAHL>L<KTVRLLRLLRLLPRLDRY-----SQYSAVV359
KCNH4-------V---T-------------SLVHL>L<KTVRLLRLLRLLQKLERY-----SQCSAVV361
KCNH5-----------------------ISSLFSS>L<KVVRLLRLGRVARKLDHY-----LEYGAAV348
KCNH6-------T---T-------------TLIGL>L<KTARLLRLVRVARKLDRY-----SEYGAAV400
KCNH7-------T---T-------------TLIGL>L<KTARLLRLVRVARKLDRY-----SEYGAAV551
KCNH8-------V---V-------------SLVHL>L<KTVRLLRLLRLLQKLDRY-----SQHSTIV355
CNGA1-------------------------PEIRL>N<RLLRFSRMFEFFQRTETR-----TNYPNIF298
CNGA2-------------------------PEVRF>N<RLLHFARMFEFFDRTETR-----TNYPNIF273
CNGA3-------------------------PEVRF>N<RLLKFSRLFEFFDRTETR-----TNYPNMF301
CNGA4-------------------------PTLRL>N<RFLRAPRLFEAFDRTETR-----TAYPNAF167
CNGB1-------------------------PLLRL>P<RCLKYMAFFEFNSRLESI-----LSKAYVY789
CNGB3-------------------------PMFRA>N<RMLKYTSFFEFNHHLESI-----MDKAYIY351
HCN1TARALR-IVRFT-------------KILSL>L<RLLRLSRLIRYIHQWEEIFHMTYDLASAVV296
HCN2TARALR-IVRFT-------------KILSL>L<RLLRLSRLIRYIHQWEEIFHMTYDLASAVM365
HCN3TARALR-IVRFT-------------KILSL>L<RLLRLSRLIRYIHQWEEIFHMTYDLASAVV249
HCN4TARALR-IVRFT-------------KILSL>L<RLLRLSRLIRYIHQWEEIFHMTYDLASAVV416
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 524 for KCNH2.