Paralogue Annotation for KCNH2 residue 523

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 523
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 523

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNH1S352YZimmermann-Laband syndromeMedium6 25915598, 25915598

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---------------------------LIG>L<LKTARLLRLVRVARKLDRY-----SEYGAA548
KCNH1PGKIGFADQ---IPPPLEGRESQGISSLFS>S<LKVVRLLRLGRVARKLDHY-----IEYGAA377
KCNH3--------V---Y-------------FGAH>L<LKTVRLLRLLRLLPRLDRY-----SQYSAV358
KCNH4--------V---T-------------SLVH>L<LKTVRLLRLLRLLQKLERY-----SQCSAV360
KCNH5------------------------ISSLFS>S<LKVVRLLRLGRVARKLDHY-----LEYGAA347
KCNH6--------T---T-------------TLIG>L<LKTARLLRLVRVARKLDRY-----SEYGAA399
KCNH7--------T---T-------------TLIG>L<LKTARLLRLVRVARKLDRY-----SEYGAA550
KCNH8--------V---V-------------SLVH>L<LKTVRLLRLLRLLQKLDRY-----SQHSTI354
CNGA1--------------------------PEIR>L<NRLLRFSRMFEFFQRTETR-----TNYPNI297
CNGA2--------------------------PEVR>F<NRLLHFARMFEFFDRTETR-----TNYPNI272
CNGA3--------------------------PEVR>F<NRLLKFSRLFEFFDRTETR-----TNYPNM300
CNGA4--------------------------PTLR>L<NRFLRAPRLFEAFDRTETR-----TAYPNA166
CNGB1--------------------------PLLR>L<PRCLKYMAFFEFNSRLESI-----LSKAYV788
CNGB3--------------------------PMFR>A<NRMLKYTSFFEFNHHLESI-----MDKAYI350
HCN1KTARALR-IVRFT-------------KILS>L<LRLLRLSRLIRYIHQWEEIFHMTYDLASAV295
HCN2KTARALR-IVRFT-------------KILS>L<LRLLRLSRLIRYIHQWEEIFHMTYDLASAV364
HCN3KTARALR-IVRFT-------------KILS>L<LRLLRLSRLIRYIHQWEEIFHMTYDLASAV248
HCN4KTARALR-IVRFT-------------KILS>L<LRLLRLSRLIRYIHQWEEIFHMTYDLASAV415
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 523 for KCNH2.