No paralogue variants have been mapped to residue 746 for KCNH2.
KCNH2 | VLKGFPECLQADICLHLNRSLLQHCKPFRG>A<TKGCLRALAMKFKTTHAPPGDTLVHAGDLL | 776 |
KCNH1 | VLQICPKDMRADICVHLNRKVFKEHPAFRL>A<SDGCLRALAMEFQTVHCAPGDLIYHAGESV | 615 |
KCNH3 | LLQSLPDELRADIAMHLHKEVL-QLPLFEA>A<SRGCLRALSLALRPAFCTPGEYLIHQGDAL | 616 |
KCNH4 | LLRDFPDELRADIAMHLNREIL-QLPLFGA>A<SRGCLRALSLHIKTSFCAPGEYLLRRGDAL | 590 |
KCNH5 | VLSICPKDMRADICVHLNRKVFNEHPAFRL>A<SDGCLRALAVEFQTIHCAPGDLIYHAGESV | 584 |
KCNH6 | VLKGFPECLQADICLHLHRALLQHCPAFSG>A<GKGCLRALAVKFKTTHAPPGDTLVHLGDVL | 628 |
KCNH7 | VLKGFPECLQADICLHLNQTLLQNCKAFRG>A<SKGCLRALAMKFKTTHAPPGDTLVHCGDVL | 779 |
KCNH8 | LLKDFPDELRSDITMHLNKEIL-QLSLFEC>A<SRGCLRSLSLHIKTSFCAPGEYLLRQGDAL | 585 |
CNGA1 | VLKYLPDKLRAEIAINVHLDTLKKVRIFAD>C<EAGLLVELVLKLQPQVYSPGDYICKKGDIG | 513 |
CNGA2 | ILKNLPAKLRAEIAINVHLSTLKKVRIFHD>C<EAGLLVELVLKLRPQVFSPGDYICRKGDIG | 488 |
CNGA3 | VLKSLPDKLKAEIAINVHLDTLKKVRIFQD>C<EAGLLVELVLKLRPTVFSPGDYICKKGDIG | 516 |
CNGA4 | ILQHLPERLRAEVAVSVHLSTLSRVQIFQN>C<EASLLEELVLKLQPQTYSPGEYVCRKGDIG | 382 |
CNGB1 | LMVQLPDKMRLDLAIDVNYNIVSKVALFQG>C<DRQMIFDMLKRLRSVVYLPNDYVCKKGEIG | 996 |
CNGB3 | LLKTLPTTVQLALAIDVNFSIISKVDLFKG>C<DTQMIYDMLLRLKSVLYLPGDFVCKKGEIG | 558 |
HCN1 | ILNELNDPLREEIVNFNCRKLVATMPLFAN>A<DPNFVTAMLSKLRFEVFQPGDYIIREGAVG | 509 |
HCN2 | ILGELNGPLREEIVNFNCRKLVASMPLFAN>A<DPNFVTAMLTKLKFEVFQPGDYIIREGTIG | 578 |
HCN3 | ILGELSEPLREEIINFTCRGLVAHMPLFAH>A<DPSFVTAVLTKLRFEVFQPGDLVVREGSVG | 462 |
HCN4 | ILGELSEPLREEIINFNCRKLVASMPLFAN>A<DPNFVTSMLTKLRFEVFQPGDYIIREGTIG | 629 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A746S | c.2236G>T | Putative Benign | SIFT: Polyphen: |