No paralogue variants have been mapped to residue 486 for KCNH2.
KCNH2 | IVDIMFIVDI-LINFRTTYVN-ANEEVVSH>P<GRIAVHYFKGW-FLIDMVAAIPFDLLIFGS | 515 |
KCNH1 | IVDVIFLVDI-VLNFHTTFVG-PAGEVISD>P<KLIRMNYLKTW-FVIDLLSCLPYDVINAFE | 313 |
KCNH3 | AVEVLFILDI-VLNFRTTFVS-KSGQVVFA>P<KSICLHYVTTW-FLLDVIAALPFDLLHAF- | 323 |
KCNH4 | AVEMLFILDI-ILNFRTTYVS-QSGQVISA>P<RSIGLHYLATW-FFIDLIAALPFDLLYIF- | 325 |
KCNH5 | VVDVIFLVDI-VLNFHTTFVG-PGGEVISD>P<KLIRMNYLKTW-FVIDLLSCLPYDIINAFE | 310 |
KCNH6 | IVDIMFVVDI-VINFRTTYVN-TNDEVVSH>P<RRIAVHYFKGW-FLIDMVAAIPFDLLIFRT | 363 |
KCNH7 | IVDIMFIIDI-LINFRTTYVN-QNEEVVSD>P<AKIAIHYFKGW-FLIDMVAAIPFDLLIFGS | 514 |
KCNH8 | AVEILFIIDI-ILNFRTTYVS-KSGQVIFE>A<RSICIHYVTTW-FIIDLIAALPFDLLYAF- | 319 |
CNGA1 | VSDIVYLIDM-FVRTRTGYLE--QGLLVKE>E<LKLINKYKSNLQFKLDVLSLIPTDLLYFKL | 263 |
CNGA2 | VSDVVYIADL-FIRLRTGFLE--QGLLVKD>T<KKLRDNYIHTLQFKLDVASIIPTDLIYFAV | 238 |
CNGA3 | SADVLYVLDV-LVRARTGFLE--QGLMVSD>T<NRLWQHYKTTTQFKLDVLSLVPTDLAYLKV | 266 |
CNGA4 | TSDLLYLLDM-VVRFHTGFLE--QGILVVD>K<GRISSRYVRTWSFFLDLASLMPTDVVYVRL | 132 |
CNGB1 | LCDLIYFLDITVFQTRLQFVR--GGDIITD>K<KDMRNNYLKSRRFKMDLLSLLPLDFLYLKV | 755 |
CNGB3 | ICDIIYLYDMLFIQPRLQFVR--GGDIIVD>S<NELRKHYRTSTKFQLDVASIIPFDICYLFF | 317 |
HCN1 | ASDTVFLLDL-IMNFRTGTVNEDSSEIILD>P<KVIKMNYLKSW-FVVDFISSIPVDYIFLIV | 239 |
HCN2 | VSDTFFLMDL-VLNFRTGIVIEDNTEIILD>P<EKIKKKYLRTW-FVVDFVSSIPVDYIFLIV | 308 |
HCN3 | LSDTFFLLDL-VLNFRTGIVVEEGAEILLA>P<RAIRTRYLRTW-FLVDLISSIPVDYIFLVV | 190 |
HCN4 | VSDTFFLIDL-VLNFRTGIVVEDNTEIILD>P<QRIKMKYLKSW-FMVDFISSIPVDYIFLIV | 359 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P486R | c.1457C>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | 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 |