No paralogue variants have been mapped to residue 502 for KCNH2.
KCNH2 | TYVN-ANEEVVSHPGRIAVHYFKGW-FLID>M<VAAIPFDLLIFGSGSEE------------- | 519 |
KCNH1 | TFVG-PAGEVISDPKLIRMNYLKTW-FVID>L<LSCLPYDVINAFENVDEVSAFMGDPGKIGF | 330 |
KCNH3 | TFVS-KSGQVVFAPKSICLHYVTTW-FLLD>V<IAALPFDLLHAF-KVN-------------- | 326 |
KCNH4 | TYVS-QSGQVISAPRSIGLHYLATW-FFID>L<IAALPFDLLYIF-NIT-------------- | 328 |
KCNH5 | TFVG-PGGEVISDPKLIRMNYLKTW-FVID>L<LSCLPYDIINAFENVDEG------------ | 315 |
KCNH6 | TYVN-TNDEVVSHPRRIAVHYFKGW-FLID>M<VAAIPFDLLIFRTGSDE------------- | 367 |
KCNH7 | TYVN-QNEEVVSDPAKIAIHYFKGW-FLID>M<VAAIPFDLLIFGSGSDE------------- | 518 |
KCNH8 | TYVS-KSGQVIFEARSICIHYVTTW-FIID>L<IAALPFDLLYAF-NVT-------------- | 322 |
CNGA1 | GYLE--QGLLVKEELKLINKYKSNLQFKLD>V<LSLIPTDLLYFKLGWNY------------- | 267 |
CNGA2 | GFLE--QGLLVKDTKKLRDNYIHTLQFKLD>V<ASIIPTDLIYFAVDIHS------------- | 242 |
CNGA3 | GFLE--QGLMVSDTNRLWQHYKTTTQFKLD>V<LSLVPTDLAYLKVGTNY------------- | 270 |
CNGA4 | GFLE--QGILVVDKGRISSRYVRTWSFFLD>L<ASLMPTDVVYVRLGPHT------------- | 136 |
CNGB1 | QFVR--GGDIITDKKDMRNNYLKSRRFKMD>L<LSLLPLDFLYLKVGVN-------------- | 758 |
CNGB3 | QFVR--GGDIIVDSNELRKHYRTSTKFQLD>V<ASIIPFDICYLFFGFN-------------- | 320 |
HCN1 | GTVNEDSSEIILDPKVIKMNYLKSW-FVVD>F<ISSIPVDYIFLIVEK--GMDSEVYKTARAL | 254 |
HCN2 | GIVIEDNTEIILDPEKIKKKYLRTW-FVVD>F<VSSIPVDYIFLIVEK--GIDSEVYKTARAL | 323 |
HCN3 | GIVVEEGAEILLAPRAIRTRYLRTW-FLVD>L<ISSIPVDYIFLVVELEPRLDAEVYKTARAL | 207 |
HCN4 | GIVVEDNTEIILDPQRIKMKYLKSW-FMVD>F<ISSIPVDYIFLIVET--RIDSEVYKTARAL | 374 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M502I | c.1506G>T | Putative Benign | SIFT: Polyphen: |