Paralogue Annotation for KCNH2 residue 516

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 516
Reference Amino Acid: G - Glycine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 516

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CNGA3G267DColour-blindness, totalHigh7 11536077

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.



KCNH2GRIAVHYFKGW-FLIDMVAAIPFDLLIFGS>G<SEE---------------------------519
KCNH1KLIRMNYLKTW-FVIDLLSCLPYDVINAFE>N<VDEVSAFMGDPGKIGFADQ---IPPPLEGR341
KCNH3KSICLHYVTTW-FLLDVIAALPFDLLHAF->K<VN----------------V---Y-------328
KCNH4RSIGLHYLATW-FFIDLIAALPFDLLYIF->N<IT----------------V---T-------330
KCNH5KLIRMNYLKTW-FVIDLLSCLPYDIINAFE>N<VDEG--------------------------315
KCNH6RRIAVHYFKGW-FLIDMVAAIPFDLLIFRT>G<SDE---------------T---T-------369
KCNH7AKIAIHYFKGW-FLIDMVAAIPFDLLIFGS>G<SDE---------------T---T-------520
KCNH8RSICIHYVTTW-FIIDLIAALPFDLLYAF->N<VT----------------V---V-------324
CNGA1LKLINKYKSNLQFKLDVLSLIPTDLLYFKL>G<WNY---------------------------267
CNGA2KKLRDNYIHTLQFKLDVASIIPTDLIYFAV>D<IHS---------------------------242
CNGA3NRLWQHYKTTTQFKLDVLSLVPTDLAYLKV>G<TNY---------------------------270
CNGA4GRISSRYVRTWSFFLDLASLMPTDVVYVRL>G<PHT---------------------------136
CNGB1KDMRNNYLKSRRFKMDLLSLLPLDFLYLKV>G<VN----------------------------758
CNGB3NELRKHYRTSTKFQLDVASIIPFDICYLFF>G<FN----------------------------320
HCN1KVIKMNYLKSW-FVVDFISSIPVDYIFLIV>E<K--GMDSEVYKTARALR-IVRFT-------260
HCN2EKIKKKYLRTW-FVVDFVSSIPVDYIFLIV>E<K--GIDSEVYKTARALR-IVRFT-------329
HCN3RAIRTRYLRTW-FLVDLISSIPVDYIFLVV>E<LEPRLDAEVYKTARALR-IVRFT-------213
HCN4QRIKMKYLKSW-FMVDFISSIPVDYIFLIV>E<T--RIDSEVYKTARALR-IVRFT-------380
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

There are currently no reported variants at residue 516 for KCNH2.