Paralogue Annotation for KCNH2 residue 486

Residue details

Gene: KCNH2
Reference Sequences: LRG: LRG_288, Ensembl variant: ENST00000262186 / ENSP00000262186
Amino Acid Position: 486
Reference Amino Acid: P - Proline
Protein Domain: Transmembrane/Linker/Pore


Paralogue Variants mapped to KCNH2 residue 486

No paralogue variants have been mapped to residue 486 for KCNH2.



KCNH2IVDIMFIVDI-LINFRTTYVN-ANEEVVSH>P<GRIAVHYFKGW-FLIDMVAAIPFDLLIFGS515
KCNH1IVDVIFLVDI-VLNFHTTFVG-PAGEVISD>P<KLIRMNYLKTW-FVIDLLSCLPYDVINAFE313
KCNH3AVEVLFILDI-VLNFRTTFVS-KSGQVVFA>P<KSICLHYVTTW-FLLDVIAALPFDLLHAF-323
KCNH4AVEMLFILDI-ILNFRTTYVS-QSGQVISA>P<RSIGLHYLATW-FFIDLIAALPFDLLYIF-325
KCNH5VVDVIFLVDI-VLNFHTTFVG-PGGEVISD>P<KLIRMNYLKTW-FVIDLLSCLPYDIINAFE310
KCNH6IVDIMFVVDI-VINFRTTYVN-TNDEVVSH>P<RRIAVHYFKGW-FLIDMVAAIPFDLLIFRT363
KCNH7IVDIMFIIDI-LINFRTTYVN-QNEEVVSD>P<AKIAIHYFKGW-FLIDMVAAIPFDLLIFGS514
KCNH8AVEILFIIDI-ILNFRTTYVS-KSGQVIFE>A<RSICIHYVTTW-FIIDLIAALPFDLLYAF-319
CNGA1VSDIVYLIDM-FVRTRTGYLE--QGLLVKE>E<LKLINKYKSNLQFKLDVLSLIPTDLLYFKL263
CNGA2VSDVVYIADL-FIRLRTGFLE--QGLLVKD>T<KKLRDNYIHTLQFKLDVASIIPTDLIYFAV238
CNGA3SADVLYVLDV-LVRARTGFLE--QGLMVSD>T<NRLWQHYKTTTQFKLDVLSLVPTDLAYLKV266
CNGA4TSDLLYLLDM-VVRFHTGFLE--QGILVVD>K<GRISSRYVRTWSFFLDLASLMPTDVVYVRL132
CNGB1LCDLIYFLDITVFQTRLQFVR--GGDIITD>K<KDMRNNYLKSRRFKMDLLSLLPLDFLYLKV755
CNGB3ICDIIYLYDMLFIQPRLQFVR--GGDIIVD>S<NELRKHYRTSTKFQLDVASIIPFDICYLFF317
HCN1ASDTVFLLDL-IMNFRTGTVNEDSSEIILD>P<KVIKMNYLKSW-FVVDFISSIPVDYIFLIV239
HCN2VSDTFFLMDL-VLNFRTGIVIEDNTEIILD>P<EKIKKKYLRTW-FVVDFVSSIPVDYIFLIV308
HCN3LSDTFFLLDL-VLNFRTGIVVEEGAEILLA>P<RAIRTRYLRTW-FLVDLISSIPVDYIFLVV190
HCN4VSDTFFLIDL-VLNFRTGIVVEDNTEIILD>P<QRIKMKYLKSW-FMVDFISSIPVDYIFLIV359
cons                              > <                              

See full Alignment of Paralogues


Known Variants in KCNH2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P486Rc.1457C>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661