Paralogue Annotation for KCNH2 residue 525

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 525
Reference Amino Acid: K - Lysine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 525

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3R277GAchromatopsiaMedium6 20506298
CNGA3R277CColour-blindness, totalMedium6 11536077, 20238023, 21911670, 15743887, 23082193, 26992781
CNGA3R277HColour-blindness, totalMedium6 11536077, 23972307, 26992781
CNGB1R765CRetinitis pigmentosaMedium6 23484092
CNGB1R765LRetinitis pigmentosa & rod cone dystrophyMedium6 26355662

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-------------------------LIGLL>K<TARLLRLVRVARKLDRY-----SEYGAAV-549
KCNH1KIGFADQ---IPPPLEGRESQGISSLFSSL>K<VVRLLRLGRVARKLDHY-----IEYGAAV-378
KCNH3------V---Y-------------FGAHLL>K<TVRLLRLLRLLPRLDRY-----SQYSAVV-359
KCNH4------V---T-------------SLVHLL>K<TVRLLRLLRLLQKLERY-----SQCSAVV-361
KCNH5----------------------ISSLFSSL>K<VVRLLRLGRVARKLDHY-----LEYGAAV-348
KCNH6------T---T-------------TLIGLL>K<TARLLRLVRVARKLDRY-----SEYGAAV-400
KCNH7------T---T-------------TLIGLL>K<TARLLRLVRVARKLDRY-----SEYGAAV-551
KCNH8------V---V-------------SLVHLL>K<TVRLLRLLRLLQKLDRY-----SQHSTIV-355
CNGA1------------------------PEIRLN>R<LLRFSRMFEFFQRTETR-----TNYPNIFR299
CNGA2------------------------PEVRFN>R<LLHFARMFEFFDRTETR-----TNYPNIFR274
CNGA3------------------------PEVRFN>R<LLKFSRLFEFFDRTETR-----TNYPNMFR302
CNGA4------------------------PTLRLN>R<FLRAPRLFEAFDRTETR-----TAYPNAFR168
CNGB1------------------------PLLRLP>R<CLKYMAFFEFNSRLESI-----LSKAYVYR790
CNGB3------------------------PMFRAN>R<MLKYTSFFEFNHHLESI-----MDKAYIYR352
HCN1ARALR-IVRFT-------------KILSLL>R<LLRLSRLIRYIHQWEEIFHMTYDLASAVVR297
HCN2ARALR-IVRFT-------------KILSLL>R<LLRLSRLIRYIHQWEEIFHMTYDLASAVMR366
HCN3ARALR-IVRFT-------------KILSLL>R<LLRLSRLIRYIHQWEEIFHMTYDLASAVVR250
HCN4ARALR-IVRFT-------------KILSLL>R<LLRLSRLIRYIHQWEEIFHMTYDLASAVVR417
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K525Nc.1575G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome. Clin Genet. 2006 70(3):214-27. 16922724