No paralogue variants have been mapped to residue 492 for KCNH2.
KCNH2 | IVDI-LINFRTTYVN-ANEEVVSHPGRIAV>H<YFKGW-FLIDMVAAIPFDLLIFGSGSEE-- | 519 |
KCNH1 | LVDI-VLNFHTTFVG-PAGEVISDPKLIRM>N<YLKTW-FVIDLLSCLPYDVINAFENVDEVS | 319 |
KCNH3 | ILDI-VLNFRTTFVS-KSGQVVFAPKSICL>H<YVTTW-FLLDVIAALPFDLLHAF-KVN--- | 326 |
KCNH4 | ILDI-ILNFRTTYVS-QSGQVISAPRSIGL>H<YLATW-FFIDLIAALPFDLLYIF-NIT--- | 328 |
KCNH5 | LVDI-VLNFHTTFVG-PGGEVISDPKLIRM>N<YLKTW-FVIDLLSCLPYDIINAFENVDEG- | 315 |
KCNH6 | VVDI-VINFRTTYVN-TNDEVVSHPRRIAV>H<YFKGW-FLIDMVAAIPFDLLIFRTGSDE-- | 367 |
KCNH7 | IIDI-LINFRTTYVN-QNEEVVSDPAKIAI>H<YFKGW-FLIDMVAAIPFDLLIFGSGSDE-- | 518 |
KCNH8 | IIDI-ILNFRTTYVS-KSGQVIFEARSICI>H<YVTTW-FIIDLIAALPFDLLYAF-NVT--- | 322 |
CNGA1 | LIDM-FVRTRTGYLE--QGLLVKEELKLIN>K<YKSNLQFKLDVLSLIPTDLLYFKLGWNY-- | 267 |
CNGA2 | IADL-FIRLRTGFLE--QGLLVKDTKKLRD>N<YIHTLQFKLDVASIIPTDLIYFAVDIHS-- | 242 |
CNGA3 | VLDV-LVRARTGFLE--QGLMVSDTNRLWQ>H<YKTTTQFKLDVLSLVPTDLAYLKVGTNY-- | 270 |
CNGA4 | LLDM-VVRFHTGFLE--QGILVVDKGRISS>R<YVRTWSFFLDLASLMPTDVVYVRLGPHT-- | 136 |
CNGB1 | FLDITVFQTRLQFVR--GGDIITDKKDMRN>N<YLKSRRFKMDLLSLLPLDFLYLKVGVN--- | 758 |
CNGB3 | LYDMLFIQPRLQFVR--GGDIIVDSNELRK>H<YRTSTKFQLDVASIIPFDICYLFFGFN--- | 320 |
HCN1 | LLDL-IMNFRTGTVNEDSSEIILDPKVIKM>N<YLKSW-FVVDFISSIPVDYIFLIVEK--GM | 243 |
HCN2 | LMDL-VLNFRTGIVIEDNTEIILDPEKIKK>K<YLRTW-FVVDFVSSIPVDYIFLIVEK--GI | 312 |
HCN3 | LLDL-VLNFRTGIVVEEGAEILLAPRAIRT>R<YLRTW-FLVDLISSIPVDYIFLVVELEPRL | 196 |
HCN4 | LIDL-VLNFRTGIVVEDNTEIILDPQRIKM>K<YLKSW-FMVDFISSIPVDYIFLIVET--RI | 363 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H492Y | c.1474C>T | Inherited Arrhythmia | LQTS | rs199472910 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG. Circ J. 2003 67(6):495-8. 12808265 | ||
Inherited Arrhythmia | LQTS | Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. Circ Arrhythm Electrophysiol. 2009 2(5):511-23. 19843919 |