No paralogue variants have been mapped to residue 499 for KCNH2.
KCNH2 | FRTTYVN-ANEEVVSHPGRIAVHYFKGW-F>L<IDMVAAIPFDLLIFGSGSEE---------- | 519 |
KCNH1 | FHTTFVG-PAGEVISDPKLIRMNYLKTW-F>V<IDLLSCLPYDVINAFENVDEVSAFMGDPGK | 327 |
KCNH3 | FRTTFVS-KSGQVVFAPKSICLHYVTTW-F>L<LDVIAALPFDLLHAF-KVN----------- | 326 |
KCNH4 | FRTTYVS-QSGQVISAPRSIGLHYLATW-F>F<IDLIAALPFDLLYIF-NIT----------- | 328 |
KCNH5 | FHTTFVG-PGGEVISDPKLIRMNYLKTW-F>V<IDLLSCLPYDIINAFENVDEG--------- | 315 |
KCNH6 | FRTTYVN-TNDEVVSHPRRIAVHYFKGW-F>L<IDMVAAIPFDLLIFRTGSDE---------- | 367 |
KCNH7 | FRTTYVN-QNEEVVSDPAKIAIHYFKGW-F>L<IDMVAAIPFDLLIFGSGSDE---------- | 518 |
KCNH8 | FRTTYVS-KSGQVIFEARSICIHYVTTW-F>I<IDLIAALPFDLLYAF-NVT----------- | 322 |
CNGA1 | TRTGYLE--QGLLVKEELKLINKYKSNLQF>K<LDVLSLIPTDLLYFKLGWNY---------- | 267 |
CNGA2 | LRTGFLE--QGLLVKDTKKLRDNYIHTLQF>K<LDVASIIPTDLIYFAVDIHS---------- | 242 |
CNGA3 | ARTGFLE--QGLMVSDTNRLWQHYKTTTQF>K<LDVLSLVPTDLAYLKVGTNY---------- | 270 |
CNGA4 | FHTGFLE--QGILVVDKGRISSRYVRTWSF>F<LDLASLMPTDVVYVRLGPHT---------- | 136 |
CNGB1 | TRLQFVR--GGDIITDKKDMRNNYLKSRRF>K<MDLLSLLPLDFLYLKVGVN----------- | 758 |
CNGB3 | PRLQFVR--GGDIIVDSNELRKHYRTSTKF>Q<LDVASIIPFDICYLFFGFN----------- | 320 |
HCN1 | FRTGTVNEDSSEIILDPKVIKMNYLKSW-F>V<VDFISSIPVDYIFLIVEK--GMDSEVYKTA | 251 |
HCN2 | FRTGIVIEDNTEIILDPEKIKKKYLRTW-F>V<VDFVSSIPVDYIFLIVEK--GIDSEVYKTA | 320 |
HCN3 | FRTGIVVEEGAEILLAPRAIRTRYLRTW-F>L<VDLISSIPVDYIFLVVELEPRLDAEVYKTA | 204 |
HCN4 | FRTGIVVEDNTEIILDPQRIKMKYLKSW-F>M<VDFISSIPVDYIFLIVET--RIDSEVYKTA | 371 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Leu499Arg | c.1496T>G | Unknown | SIFT: Polyphen: |