No paralogue variants have been mapped to residue 747 for SCN5A.
SCN5A | PFTDLTITMCIVLNTLFMALEHYNMTSEFE>E<MLQVGNLVFTGIFTAEMTFKIIALDPYYYF | 777 |
SCN1A | PFVDLAITICIVLNTLFMAMEHYPMTDHFN>N<VLTVGNLVFTGIFTAEMFLKIIAMDPYYYF | 828 |
SCN2A | PFVDLAITICIVLNTLFMAMEHYPMTEQFS>S<VLSVGNLVFTGIFTAEMFLKIIAMDPYYYF | 819 |
SCN3A | PFVDLAITICIVLNTLFMAMEHYPMTEQFS>S<VLTVGNLVFTGIFTAEMVLKIIAMDPYYYF | 820 |
SCN4A | PFVDLGITICIVLNTLFMAMEHYPMTEHFD>N<VLTVGNLVFTGIFTAEMVLKLIAMDPYEYF | 638 |
SCN7A | PFTDLFLIICIILNVCFLTLEHYPMSKQTN>T<LLNIGNLVFIGIFTAEMIFKIIAMHPYGYF | 565 |
SCN8A | PFVDLAITICIVLNTLFMAMEHHPMTPQFE>H<VLAVGNLVFTGIFTAEMFLKLIAMDPYYYF | 813 |
SCN9A | PFVDLAITICIVLNTLFMAMEHHPMTEEFK>N<VLAIGNLVFTGIFAAEMVLKLIAMDPYEYF | 793 |
SCN10A | PFAELTITLCIVVNTIFMAMEHHGMSPTFE>A<MLQIGNIVFTIFFTAEMVFKIIAFDPYYYF | 725 |
SCN11A | PFTELAITICIIINTVFLAMEHHKMEASFE>K<MLNIGNLVFTSIFIAEMCLKIIALDPYHYF | 637 |
CACNA1A | QAFYWTVLSLVALNTLCVAIVHYNQPEWLS>D<FLYYAEFIFLGLFMSEMFIKMYGLGTRPYF | 547 |
CACNA1B | QSFYWVVLCVVALNTLCVAMVHYNQPRRLT>T<TLYFAEFVFLGLFLTEMSLKMYGLGPRSYF | 543 |
CACNA1C | NVFYWLVIFLVFLNTLTIASEHYNQPNWLT>E<VQDTANKALLALFTAEMLLKMYSLGLQAYF | 584 |
CACNA1D | VTFYWLVIVLVFLNTLTISSEHYNQPDWLT>Q<IQDIANKVLLALFTCEMLVKMYSLGLQAYF | 603 |
CACNA1E | QVFYWIVLSLVALNTACVAIVHHNQPQWLT>H<LLYYAEFLFLGLFLLEMSLKMYGMGPRLYF | 536 |
CACNA1F | NACYWAVLLLVFLNTLTIASEHHGQPVWLT>Q<IQEYANKVLLCLFTVEMLLKLYGLGPSAYV | 589 |
CACNA1G | KYFGRGIMIAILVNTLSMGIEYHEQPEELT>N<ALEISNIVFTSLFALEMLLKLLVYGPFGYI | 803 |
CACNA1H | KYFSRGIMMAILVNTLSMGVEYHEQPEELT>N<ALEISNIVFTSMFALEMLLKLLACGPLGYI | 853 |
CACNA1I | KYFNRGIMMAILVNTVSMGIEHHEQPEELT>N<ILEICNVVFTSMFALEMILKLAAFGLFDYL | 700 |
CACNA1S | KVFYWLVILIVALNTLSIASEHHNQPLWLT>R<LQDIANRVLLSLFTTEMLMKMYGLGLRQYF | 492 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E747A | c.2240A>C | Putative Benign | SIFT: Polyphen: |