No paralogue variants have been mapped to residue 750 for SCN5A.
| SCN5A | DLTITMCIVLNTLFMALEHYNMTSEFEEML>Q<VGNLVFTGIFTAEMTFKIIALDPYYYFQQG | 780 |
| SCN1A | DLAITICIVLNTLFMAMEHYPMTDHFNNVL>T<VGNLVFTGIFTAEMFLKIIAMDPYYYFQEG | 831 |
| SCN2A | DLAITICIVLNTLFMAMEHYPMTEQFSSVL>S<VGNLVFTGIFTAEMFLKIIAMDPYYYFQEG | 822 |
| SCN3A | DLAITICIVLNTLFMAMEHYPMTEQFSSVL>T<VGNLVFTGIFTAEMVLKIIAMDPYYYFQEG | 823 |
| SCN4A | DLGITICIVLNTLFMAMEHYPMTEHFDNVL>T<VGNLVFTGIFTAEMVLKLIAMDPYEYFQQG | 641 |
| SCN7A | DLFLIICIILNVCFLTLEHYPMSKQTNTLL>N<IGNLVFIGIFTAEMIFKIIAMHPYGYFQVG | 568 |
| SCN8A | DLAITICIVLNTLFMAMEHHPMTPQFEHVL>A<VGNLVFTGIFTAEMFLKLIAMDPYYYFQEG | 816 |
| SCN9A | DLAITICIVLNTLFMAMEHHPMTEEFKNVL>A<IGNLVFTGIFAAEMVLKLIAMDPYEYFQVG | 796 |
| SCN10A | ELTITLCIVVNTIFMAMEHHGMSPTFEAML>Q<IGNIVFTIFFTAEMVFKIIAFDPYYYFQKK | 728 |
| SCN11A | ELAITICIIINTVFLAMEHHKMEASFEKML>N<IGNLVFTSIFIAEMCLKIIALDPYHYFRRG | 640 |
| CACNA1A | YWTVLSLVALNTLCVAIVHYNQPEWLSDFL>Y<YAEFIFLGLFMSEMFIKMYGLGTRPYFHSS | 550 |
| CACNA1B | YWVVLCVVALNTLCVAMVHYNQPRRLTTTL>Y<FAEFVFLGLFLTEMSLKMYGLGPRSYFRSS | 546 |
| CACNA1C | YWLVIFLVFLNTLTIASEHYNQPNWLTEVQ>D<TANKALLALFTAEMLLKMYSLGLQAYFVSL | 587 |
| CACNA1D | YWLVIVLVFLNTLTISSEHYNQPDWLTQIQ>D<IANKVLLALFTCEMLVKMYSLGLQAYFVSL | 606 |
| CACNA1E | YWIVLSLVALNTACVAIVHHNQPQWLTHLL>Y<YAEFLFLGLFLLEMSLKMYGMGPRLYFHSS | 539 |
| CACNA1F | YWAVLLLVFLNTLTIASEHHGQPVWLTQIQ>E<YANKVLLCLFTVEMLLKLYGLGPSAYVSSF | 592 |
| CACNA1G | GRGIMIAILVNTLSMGIEYHEQPEELTNAL>E<ISNIVFTSLFALEMLLKLLVYGPFGYIKNP | 806 |
| CACNA1H | SRGIMMAILVNTLSMGVEYHEQPEELTNAL>E<ISNIVFTSMFALEMLLKLLACGPLGYIRNP | 856 |
| CACNA1I | NRGIMMAILVNTVSMGIEHHEQPEELTNIL>E<ICNVVFTSMFALEMILKLAAFGLFDYLRNP | 703 |
| CACNA1S | YWLVILIVALNTLSIASEHHNQPLWLTRLQ>D<IANRVLLSLFTTEMLMKMYGLGLRQYFMSI | 495 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.Q750R | c.2249A>G | Inherited Arrhythmia | LQTS | rs199473152 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | ||