Paralogue Annotation for KCNH2 residue 488

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 488
Reference Amino Acid: R - Arginine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 488

No paralogue variants have been mapped to residue 488 for KCNH2.



KCNH2DIMFIVDI-LINFRTTYVN-ANEEVVSHPG>R<IAVHYFKGW-FLIDMVAAIPFDLLIFGSGS517
KCNH1DVIFLVDI-VLNFHTTFVG-PAGEVISDPK>L<IRMNYLKTW-FVIDLLSCLPYDVINAFENV315
KCNH3EVLFILDI-VLNFRTTFVS-KSGQVVFAPK>S<ICLHYVTTW-FLLDVIAALPFDLLHAF-KV325
KCNH4EMLFILDI-ILNFRTTYVS-QSGQVISAPR>S<IGLHYLATW-FFIDLIAALPFDLLYIF-NI327
KCNH5DVIFLVDI-VLNFHTTFVG-PGGEVISDPK>L<IRMNYLKTW-FVIDLLSCLPYDIINAFENV312
KCNH6DIMFVVDI-VINFRTTYVN-TNDEVVSHPR>R<IAVHYFKGW-FLIDMVAAIPFDLLIFRTGS365
KCNH7DIMFIIDI-LINFRTTYVN-QNEEVVSDPA>K<IAIHYFKGW-FLIDMVAAIPFDLLIFGSGS516
KCNH8EILFIIDI-ILNFRTTYVS-KSGQVIFEAR>S<ICIHYVTTW-FIIDLIAALPFDLLYAF-NV321
CNGA1DIVYLIDM-FVRTRTGYLE--QGLLVKEEL>K<LINKYKSNLQFKLDVLSLIPTDLLYFKLGW265
CNGA2DVVYIADL-FIRLRTGFLE--QGLLVKDTK>K<LRDNYIHTLQFKLDVASIIPTDLIYFAVDI240
CNGA3DVLYVLDV-LVRARTGFLE--QGLMVSDTN>R<LWQHYKTTTQFKLDVLSLVPTDLAYLKVGT268
CNGA4DLLYLLDM-VVRFHTGFLE--QGILVVDKG>R<ISSRYVRTWSFFLDLASLMPTDVVYVRLGP134
CNGB1DLIYFLDITVFQTRLQFVR--GGDIITDKK>D<MRNNYLKSRRFKMDLLSLLPLDFLYLKVGV757
CNGB3DIIYLYDMLFIQPRLQFVR--GGDIIVDSN>E<LRKHYRTSTKFQLDVASIIPFDICYLFFGF319
HCN1DTVFLLDL-IMNFRTGTVNEDSSEIILDPK>V<IKMNYLKSW-FVVDFISSIPVDYIFLIVEK241
HCN2DTFFLMDL-VLNFRTGIVIEDNTEIILDPE>K<IKKKYLRTW-FVVDFVSSIPVDYIFLIVEK310
HCN3DTFFLLDL-VLNFRTGIVVEEGAEILLAPR>A<IRTRYLRTW-FLVDLISSIPVDYIFLVVEL192
HCN4DTFFLIDL-VLNFRTGIVVEDNTEIILDPQ>R<IKMKYLKSW-FMVDFISSIPVDYIFLIVET361
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R488Cc.1462C>T Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.R488Hc.1463G>A Putative BenignSIFT: deleterious
Polyphen: probably damaging