Paralogue Annotation for KCNH2 residue 650

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 650
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 650

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
KCNH1L489FTemple-Baraister syndromeHigh9 25420144, 25420144, 26264464

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.



KCNH2SSLTSVGFGNVSPNTNSEKIFSICVMLIGS>L<MYASIFGNVSAIIQRLYSGTARYHTQMLRV680
KCNH1TSLTSVGFGNIAPSTDIEKIFAVAIMMIGS>L<LYATIFGNVTTIFQQMYANTNRYHEMLNSV519
KCNH3SSLTSVGFGNVSANTDTEKIFSICTMLIGA>L<MHAVVFGNVTAIIQRMYARRFLYHSRTRDL521
KCNH4SSLTSVGFGNVCANTDAEKIFSICTMLIGA>L<MHAVVFGNVTAIIQRMYSRRSLYHSRMKDL495
KCNH5TSLTTIGFGNIAPTTDVEKMFSVAMMMVGS>L<LYATIFGNVTTIFQQMYANTNRYHEMLNNV488
KCNH6SSLTSVGFGNVSPNTNSEKVFSICVMLIGS>L<MYASIFGNVSAIIQRLYSGTARYHTQMLRV532
KCNH7SSLTSVGFGNVSPNTNSEKIFSICVMLIGS>L<MYASIFGNVSAIIQRLYSGTARYHMQMLRV683
KCNH8SSLTSVGFGNVSANTDAEKIFSICTMLIGA>L<MHALVFGNVTAIIQRMYSRWSLYHTRTKDL490
CNGA1LTLTTIG-ETPPPVRDSEYVFVVVDFLIGV>L<IFATIVGNIGSMISNMNAARAEFQARIDAI417
CNGA2LTLTTIG-ETPPPVKDEEYLFVIFDFLIGV>L<IFATIVGNVGSMISNMNATRAEFQAKIDAV392
CNGA3LTLTTIG-ETPPPVKDEEYLFVVVDFLVGV>L<IFATIVGNVGSMISNMNASRAEFQAKIDSI420
CNGA4LILTTVG-DTPPPAREEEYLFMVGDFLLAV>M<GFATIMGSMSSVIYNMNTADAAFYPDHALV286
CNGB1KTLITIG-GLPDPKTLFEIVFQLLNYFTGV>F<AFSVMIGQMRDVVGAATAGQTYYRSCMDST900
CNGB3RTLITIG-GLPEPQTLFEIVFQLLNFFSGV>F<VFSSLIGQMRDVIGAATANQNYFRACMDDT462
HCN1SHMLCIGYGAQAPVSMSDLWITMLSMIVGA>T<CYAMFVGHATALIQSLDSSRRQYQEKYKQV414
HCN2SHMLCIGYGRQAPESMTDIWLTMLSMIVGA>T<CYAMFIGHATALIQSLDSSRRQYQEKYKQV483
HCN3SHMLCIGYGQQAPVGMPDVWLTMLSMIVGA>T<CYAMFIGHATALIQSLDSSRRQYQEKYKQV367
HCN4SHMLCIGYGRQAPVGMSDVWLTMLSMIVGA>T<CYAMFIGHATALIQSLDSSRRQYQEKYKQV534
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 650 for KCNH2.