No paralogue variants have been mapped to residue 483 for KCNH2.
KCNH2 | VDLIVDIMFIVDI-LINFRTTYVN-ANEEV>V<SHPGRIAVHYFKGW-FLIDMVAAIPFDLLI | 512 |
KCNH1 | VDSIVDVIFLVDI-VLNFHTTFVG-PAGEV>I<SDPKLIRMNYLKTW-FVIDLLSCLPYDVIN | 310 |
KCNH3 | CDLAVEVLFILDI-VLNFRTTFVS-KSGQV>V<FAPKSICLHYVTTW-FLLDVIAALPFDLLH | 321 |
KCNH4 | SDIAVEMLFILDI-ILNFRTTYVS-QSGQV>I<SAPRSIGLHYLATW-FFIDLIAALPFDLLY | 323 |
KCNH5 | LDSVVDVIFLVDI-VLNFHTTFVG-PGGEV>I<SDPKLIRMNYLKTW-FVIDLLSCLPYDIIN | 307 |
KCNH6 | VDLIVDIMFVVDI-VINFRTTYVN-TNDEV>V<SHPRRIAVHYFKGW-FLIDMVAAIPFDLLI | 360 |
KCNH7 | VDLIVDIMFIIDI-LINFRTTYVN-QNEEV>V<SDPAKIAIHYFKGW-FLIDMVAAIPFDLLI | 511 |
KCNH8 | SDIAVEILFIIDI-ILNFRTTYVS-KSGQV>I<FEARSICIHYVTTW-FIIDLIAALPFDLLY | 317 |
CNGA1 | LDYVSDIVYLIDM-FVRTRTGYLE--QGLL>V<KEELKLINKYKSNLQFKLDVLSLIPTDLLY | 260 |
CNGA2 | LDYVSDVVYIADL-FIRLRTGFLE--QGLL>V<KDTKKLRDNYIHTLQFKLDVASIIPTDLIY | 235 |
CNGA3 | LDYSADVLYVLDV-LVRARTGFLE--QGLM>V<SDTNRLWQHYKTTTQFKLDVLSLVPTDLAY | 263 |
CNGA4 | LDYTSDLLYLLDM-VVRFHTGFLE--QGIL>V<VDKGRISSRYVRTWSFFLDLASLMPTDVVY | 129 |
CNGB1 | MDYLCDLIYFLDITVFQTRLQFVR--GGDI>I<TDKKDMRNNYLKSRRFKMDLLSLLPLDFLY | 752 |
CNGB3 | ADIICDIIYLYDMLFIQPRLQFVR--GGDI>I<VDSNELRKHYRTSTKFQLDVASIIPFDICY | 314 |
HCN1 | FNVASDTVFLLDL-IMNFRTGTVNEDSSEI>I<LDPKVIKMNYLKSW-FVVDFISSIPVDYIF | 236 |
HCN2 | FNVVSDTFFLMDL-VLNFRTGIVIEDNTEI>I<LDPEKIKKKYLRTW-FVVDFVSSIPVDYIF | 305 |
HCN3 | FNVLSDTFFLLDL-VLNFRTGIVVEEGAEI>L<LAPRAIRTRYLRTW-FLVDLISSIPVDYIF | 187 |
HCN4 | FNVVSDTFFLIDL-VLNFRTGIVVEDNTEI>I<LDPQRIKMKYLKSW-FMVDFISSIPVDYIF | 356 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V483I | c.1447G>A | Putative Benign | SIFT: Polyphen: |