Paralogue Annotation for KCNH2 residue 410

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 410
Reference Amino Acid: W - Tryptophan
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 410

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3W171XCone dystrophyHigh7 24903488
CNGA3W171CCone dystrophyHigh7 24903488, 25637600

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.



KCNH2ADVL-PEYKLQAPRIHRWTILHYSPFKA-V>W<DWLILLLVIYTAVFTPYSAAFLLKETEEGP440
KCNH1SDIL-PQYKQEAPKTPPHIILHYCVFKT-T>W<DWIILILTFYTAILVPYNVSFKTRQN----246
KCNH3KPNL-PEYKVAAIRKSPFILLHCGALRA-T>W<DGFILLATLYVAVTVPYSVCVSTARE----253
KCNH4KPSV-PEYKVASVGGSRCLLLHYSVSKA-I>W<DGLILLATFYVAVTVPYNVCFSGDDD----255
KCNH5SDIL-PQYKQEAPKTPPHIILHYCAFKT-T>W<DWVILILTFYTAIMVPYNVSFKTKQN----243
KCNH6ADVL-PEYKLQAPRIHRWTILHYSPFKA-V>W<DWLILLLVIYTAVFTPYSAAFLLSDQDE-S288
KCNH7ADVL-PEYKLQTPRINKFTILHYSPFKA-V>W<DWLILLLVIYTAIFTPYSAAFLLNDREE-Q439
KCNH8KPAF-PEYKVSDAKKSKFILLHFSTFKA-G>W<DWLILLATFYVAVTVPYNVCFIGNDD----250
CNGA1--EEKSKDKKEEEKKEVVVIDPSGNTYY-N>W<LFCITLPVMYNWTMVIARACFDELQS----194
CNGA2---KDGEDKGTKKKFELFVLDPAGDWYY-C>W<LFVIAMPVLYNWCLLVARACFSDLQK----169
CNGA3SNN-TEEE-KKTKKKDAIVVDPSSNLYY-R>W<LTAIALPVFYNWYLLICRACFDELQS----197
CNGA4-----SPPAPSKARKLLPVLDPSGDYYY-W>W<LNTMVFPVMYNLIILVCRACFPDLQH----63
CNGB1FKHR-PW----KKYQFPQSIDPLTNLMYVL>W<LFFVVMAWNWNCWLIPVRWAFPYQTP----685
CNGB3VKKM-PLTEYLKRIKLPNSIDSYTDRLYLL>W<LLLVTLAYNWNCCFIPLRLVFPYQTA----247
HCN1QKAV-EKEQERVKTAGFWIIHPYSDFRF-Y>W<DLIMLIMMVGNLVIIPVGITFFTEQT----171
HCN2QKAV-EREQERVKSAGAWIIHPYSDFRF-Y>W<DFTMLLFMVGNLIIIPVGITFFKDET----240
HCN3HKAV-EIEQERVKSAGAWIIHPYSDFRF-Y>W<DLIMLLLMVGNLIVLPVGITFFKEEN----122
HCN4QKAV-EREQERVKSAGFWIIHPYSDFRF-Y>W<DLTMLLLMVGNLIIIPVGITFFKDEN----291
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W410Sc.1229G>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA. 2005 294(23):2975-80. 16414944