Paralogue Annotation for KCNH2 residue 642

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 642
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 642

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGB3L424RCone-rod dystrophyMedium9 26992781

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.



KCNH2VTALYFTFSSLTSVGFGNVSPNTNSEKIFS>I<CVMLIGSLMYASIFGNVSAIIQRLYSGTAR672
KCNH1ISSLYFTMTSLTSVGFGNIAPSTDIEKIFA>V<AIMMIGSLLYATIFGNVTTIFQQMYANTNR511
KCNH3ITSLYFALSSLTSVGFGNVSANTDTEKIFS>I<CTMLIGALMHAVVFGNVTAIIQRMYARRFL513
KCNH4IAALYFTLSSLTSVGFGNVCANTDAEKIFS>I<CTMLIGALMHAVVFGNVTAIIQRMYSRRSL487
KCNH5VSSLYFTMTSLTTIGFGNIAPTTDVEKMFS>V<AMMMVGSLLYATIFGNVTTIFQQMYANTNR480
KCNH6VTALYFTFSSLTSVGFGNVSPNTNSEKVFS>I<CVMLIGSLMYASIFGNVSAIIQRLYSGTAR524
KCNH7VTALYFTFSSLTSVGFGNVSPNTNSEKIFS>I<CVMLIGSLMYASIFGNVSAIIQRLYSGTAR675
KCNH8IAALYFTLSSLTSVGFGNVSANTDAEKIFS>I<CTMLIGALMHALVFGNVTAIIQRMYSRWSL482
CNGA1VYSLYWSTLTLTTIG-ETPPPVRDSEYVFV>V<VDFLIGVLIFATIVGNIGSMISNMNAARAE409
CNGA2IYCLYWSTLTLTTIG-ETPPPVKDEEYLFV>I<FDFLIGVLIFATIVGNVGSMISNMNATRAE384
CNGA3IYSLYWSTLTLTTIG-ETPPPVKDEEYLFV>V<VDFLVGVLIFATIVGNVGSMISNMNASRAE412
CNGA4LYSFYFSTLILTTVG-DTPPPAREEEYLFM>V<GDFLLAVMGFATIMGSMSSVIYNMNTADAA278
CNGB1IRCYYFAVKTLITIG-GLPDPKTLFEIVFQ>L<LNYFTGVFAFSVMIGQMRDVVGAATAGQTY892
CNGB3LRCYYWAVRTLITIG-GLPEPQTLFEIVFQ>L<LNFFSGVFVFSSLIGQMRDVIGAATANQNY454
HCN1SYALFKAMSHMLCIGYGAQAPVSMSDLWIT>M<LSMIVGATCYAMFVGHATALIQSLDSSRRQ406
HCN2SFALFKAMSHMLCIGYGRQAPESMTDIWLT>M<LSMIVGATCYAMFIGHATALIQSLDSSRRQ475
HCN3SHALFKAMSHMLCIGYGQQAPVGMPDVWLT>M<LSMIVGATCYAMFIGHATALIQSLDSSRRQ359
HCN4SYALFKAMSHMLCIGYGRQAPVGMSDVWLT>M<LSMIVGATCYAMFIGHATALIQSLDSSRRQ526
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I642Mc.1926C>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches. J Cardiovasc Transl Res. 2013 6(1):94-103. doi: 10.1007/s12265-012-9401-8. 22956155