Paralogue Annotation for KCNH2 residue 489

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 489
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 489

No paralogue variants have been mapped to residue 489 for KCNH2.



KCNH2IMFIVDI-LINFRTTYVN-ANEEVVSHPGR>I<AVHYFKGW-FLIDMVAAIPFDLLIFGSGSE518
KCNH1VIFLVDI-VLNFHTTFVG-PAGEVISDPKL>I<RMNYLKTW-FVIDLLSCLPYDVINAFENVD316
KCNH3VLFILDI-VLNFRTTFVS-KSGQVVFAPKS>I<CLHYVTTW-FLLDVIAALPFDLLHAF-KVN326
KCNH4MLFILDI-ILNFRTTYVS-QSGQVISAPRS>I<GLHYLATW-FFIDLIAALPFDLLYIF-NIT328
KCNH5VIFLVDI-VLNFHTTFVG-PGGEVISDPKL>I<RMNYLKTW-FVIDLLSCLPYDIINAFENVD313
KCNH6IMFVVDI-VINFRTTYVN-TNDEVVSHPRR>I<AVHYFKGW-FLIDMVAAIPFDLLIFRTGSD366
KCNH7IMFIIDI-LINFRTTYVN-QNEEVVSDPAK>I<AIHYFKGW-FLIDMVAAIPFDLLIFGSGSD517
KCNH8ILFIIDI-ILNFRTTYVS-KSGQVIFEARS>I<CIHYVTTW-FIIDLIAALPFDLLYAF-NVT322
CNGA1IVYLIDM-FVRTRTGYLE--QGLLVKEELK>L<INKYKSNLQFKLDVLSLIPTDLLYFKLGWN266
CNGA2VVYIADL-FIRLRTGFLE--QGLLVKDTKK>L<RDNYIHTLQFKLDVASIIPTDLIYFAVDIH241
CNGA3VLYVLDV-LVRARTGFLE--QGLMVSDTNR>L<WQHYKTTTQFKLDVLSLVPTDLAYLKVGTN269
CNGA4LLYLLDM-VVRFHTGFLE--QGILVVDKGR>I<SSRYVRTWSFFLDLASLMPTDVVYVRLGPH135
CNGB1LIYFLDITVFQTRLQFVR--GGDIITDKKD>M<RNNYLKSRRFKMDLLSLLPLDFLYLKVGVN758
CNGB3IIYLYDMLFIQPRLQFVR--GGDIIVDSNE>L<RKHYRTSTKFQLDVASIIPFDICYLFFGFN320
HCN1TVFLLDL-IMNFRTGTVNEDSSEIILDPKV>I<KMNYLKSW-FVVDFISSIPVDYIFLIVEK-241
HCN2TFFLMDL-VLNFRTGIVIEDNTEIILDPEK>I<KKKYLRTW-FVVDFVSSIPVDYIFLIVEK-310
HCN3TFFLLDL-VLNFRTGIVVEEGAEILLAPRA>I<RTRYLRTW-FLVDLISSIPVDYIFLVVELE193
HCN4TFFLIDL-VLNFRTGIVVEDNTEIILDPQR>I<KMKYLKSW-FMVDFISSIPVDYIFLIVET-361
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I489Fc.1465A>T Inherited ArrhythmiaLQTSrs199472909SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. Circ J. 2008 72(5):694-9. 18441445
p.I489Tc.1466T>C Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity? Pediatr Cardiol. 2016 37(5):962-70. doi: 10.1007/s00246-016-1378-7. 27041096