No paralogue variants have been mapped to residue 754 for KCNH2.
KCNH2 | LQADICLHLNRSLLQHCKPFRGATKGCLRA>L<AMKFKTTHAPPGDTLVHAGDLLTALYFISR | 784 |
KCNH1 | MRADICVHLNRKVFKEHPAFRLASDGCLRA>L<AMEFQTVHCAPGDLIYHAGESVDSLCFVVS | 623 |
KCNH3 | LRADIAMHLHKEVL-QLPLFEAASRGCLRA>L<SLALRPAFCTPGEYLIHQGDALQALYFVCS | 624 |
KCNH4 | LRADIAMHLNREIL-QLPLFGAASRGCLRA>L<SLHIKTSFCAPGEYLLRRGDALQAHYYVCS | 598 |
KCNH5 | MRADICVHLNRKVFNEHPAFRLASDGCLRA>L<AVEFQTIHCAPGDLIYHAGESVDALCFVVS | 592 |
KCNH6 | LQADICLHLHRALLQHCPAFSGAGKGCLRA>L<AVKFKTTHAPPGDTLVHLGDVLSTLYFISR | 636 |
KCNH7 | LQADICLHLNQTLLQNCKAFRGASKGCLRA>L<AMKFKTTHAPPGDTLVHCGDVLTALYFLSR | 787 |
KCNH8 | LRSDITMHLNKEIL-QLSLFECASRGCLRS>L<SLHIKTSFCAPGEYLLRQGDALQAIYFVCS | 593 |
CNGA1 | LRAEIAINVHLDTLKKVRIFADCEAGLLVE>L<VLKLQPQVYSPGDYICKKGDIGREMYIIKE | 521 |
CNGA2 | LRAEIAINVHLSTLKKVRIFHDCEAGLLVE>L<VLKLRPQVFSPGDYICRKGDIGKEMYIIKE | 496 |
CNGA3 | LKAEIAINVHLDTLKKVRIFQDCEAGLLVE>L<VLKLRPTVFSPGDYICKKGDIGKEMYIINE | 524 |
CNGA4 | LRAEVAVSVHLSTLSRVQIFQNCEASLLEE>L<VLKLQPQTYSPGEYVCRKGDIGQEMYIIRE | 390 |
CNGB1 | MRLDLAIDVNYNIVSKVALFQGCDRQMIFD>M<LKRLRSVVYLPNDYVCKKGEIGREMYIIQA | 1004 |
CNGB3 | VQLALAIDVNFSIISKVDLFKGCDTQMIYD>M<LLRLKSVLYLPGDFVCKKGEIGKEMYIIKH | 566 |
HCN1 | LREEIVNFNCRKLVATMPLFANADPNFVTA>M<LSKLRFEVFQPGDYIIREGAVGKKMYFIQH | 517 |
HCN2 | LREEIVNFNCRKLVASMPLFANADPNFVTA>M<LTKLKFEVFQPGDYIIREGTIGKKMYFIQH | 586 |
HCN3 | LREEIINFTCRGLVAHMPLFAHADPSFVTA>V<LTKLRFEVFQPGDLVVREGSVGRKMYFIQH | 470 |
HCN4 | LREEIINFNCRKLVASMPLFANADPNFVTS>M<LTKLRFEVFQPGDYIIREGTIGKKMYFIQH | 637 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Leu754Arg | c.2261T>G | Unknown | SIFT: Polyphen: |