No paralogue variants have been mapped to residue 740 for KCNH2.
KCNH2 | GIDMNAVLKGFPECLQADICLHLNRSLLQH>C<KPFRGATKGCLRALAMKFKTTHAPPGDTLV | 770 |
KCNH1 | GIDTEKVLQICPKDMRADICVHLNRKVFKE>H<PAFRLASDGCLRALAMEFQTVHCAPGDLIY | 609 |
KCNH3 | GIDTTELLQSLPDELRADIAMHLHKEVL-Q>L<PLFEAASRGCLRALSLALRPAFCTPGEYLI | 610 |
KCNH4 | GIDANELLRDFPDELRADIAMHLNREIL-Q>L<PLFGAASRGCLRALSLHIKTSFCAPGEYLL | 584 |
KCNH5 | GIDTEKVLSICPKDMRADICVHLNRKVFNE>H<PAFRLASDGCLRALAVEFQTIHCAPGDLIY | 578 |
KCNH6 | GIDMNAVLKGFPECLQADICLHLHRALLQH>C<PAFSGAGKGCLRALAVKFKTTHAPPGDTLV | 622 |
KCNH7 | GIDMNMVLKGFPECLQADICLHLNQTLLQN>C<KAFRGASKGCLRALAMKFKTTHAPPGDTLV | 773 |
KCNH8 | GIDSNELLKDFPDELRSDITMHLNKEIL-Q>L<SLFECASRGCLRSLSLHIKTSFCAPGEYLL | 579 |
CNGA1 | TVDEKEVLKYLPDKLRAEIAINVHLDTLKK>V<RIFADCEAGLLVELVLKLQPQVYSPGDYIC | 507 |
CNGA2 | TVDEREILKNLPAKLRAEIAINVHLSTLKK>V<RIFHDCEAGLLVELVLKLRPQVFSPGDYIC | 482 |
CNGA3 | TVDEKEVLKSLPDKLKAEIAINVHLDTLKK>V<RIFQDCEAGLLVELVLKLRPTVFSPGDYIC | 510 |
CNGA4 | MTNEVAILQHLPERLRAEVAVSVHLSTLSR>V<QIFQNCEASLLEELVLKLQPQTYSPGEYVC | 376 |
CNGB1 | MLDESELMVQLPDKMRLDLAIDVNYNIVSK>V<ALFQGCDRQMIFDMLKRLRSVVYLPNDYVC | 990 |
CNGB3 | MLDESDLLKTLPTTVQLALAIDVNFSIISK>V<DLFKGCDTQMIYDMLLRLKSVLYLPGDFVC | 552 |
HCN1 | IFDEENILNELNDPLREEIVNFNCRKLVAT>M<PLFANADPNFVTAMLSKLRFEVFQPGDYII | 503 |
HCN2 | MFDEDSILGELNGPLREEIVNFNCRKLVAS>M<PLFANADPNFVTAMLTKLKFEVFQPGDYII | 572 |
HCN3 | MFDEESILGELSEPLREEIINFTCRGLVAH>M<PLFAHADPSFVTAVLTKLRFEVFQPGDLVV | 456 |
HCN4 | MFDEESILGELSEPLREEIINFNCRKLVAS>M<PLFANADPNFVTSMLTKLRFEVFQPGDYII | 623 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C740W | c.2220C>G | Putative Benign | SIFT: Polyphen: | ||
p.C740G | c.2218T>G | Putative Benign | SIFT: Polyphen: |