No paralogue variants have been mapped to residue 124 for SCN5A.
| SCN5A | -VLNKGKTIFRFSATNALYVLSPFHPIRRA>A<VKILVHSLFNMLIMCTILTNCVFMAQH--- | 151 |
| SCN1A | -VLNKGKAIFRFSATSALYILTPFNPLRKI>A<IKILVHSLFSMLIMCTILTNCVFMTMS--- | 148 |
| SCN2A | -VLNKGKAISRFSATPALYILTPFNPIRKL>A<IKILVHSLFNMLIMCTILTNCVFMTMS--- | 149 |
| SCN3A | -VMNKGKAIFRFSATSALYILTPLNPVRKI>A<IKILVHSLFSMLIMCTILTNCVFMTLS--- | 148 |
| SCN4A | -VLNKGKAIFRFSATPALYLLSPFSVVRRG>A<IKVLIHALFSMFIMITILTNCVFMTMS--- | 151 |
| SCN7A | -VLNKNRTIFRFNAASILCTLSPFNCIRRT>T<IKVLVHPFFQLFILISVLIDCVFMSLT--- | 138 |
| SCN8A | -VLNRGKTLFRFSATPALYILSPFNLIRRI>A<IKILIHSVFSMIIMCTILTNCVFMTFS--- | 152 |
| SCN9A | -VLNKGKTIFRFNATPALYMLSPFSPLRRI>S<IKILVHSLFSMLIMCTILTNCIFMTMN--- | 146 |
| SCN10A | -VLNKGRTISRFSATRALWLFSPFNLIRRT>A<IKVSVHSWFSLFITVTILVNCVCMTRT--- | 150 |
| SCN11A | -VLNRKRTIYRFSAKHALFIFGPFNSIRSL>A<IRVSVHSLFSMFIIGTVIINCVFMATGPA- | 151 |
| CACNA1A | -YNPIPVRQNCLTVNRSLFLFSEDNVVRKY>A<KKITEWPPFEYMILATIIANCIVLALEQHL | 121 |
| CACNA1B | -YNPIPVKQNCFTVNRSLFVFSEDNVVRKY>A<KRITEWPPFEYMILATIIANCIVLALEQHL | 118 |
| CACNA1C | -KPKKQGSTTATRPPRALLCLTLKNPIRRA>C<ISIVEWKPFEIIILLTIFANCVALAIYIPF | 147 |
| CACNA1D | -KSKKQGNSSNSRPARALFCLSLNNPIRRA>C<ISIVEWKPFDIFILLAIFANCVALAIYIPF | 149 |
| CACNA1E | -YNPIPVRQNCFTVNRSLFIFGEDNIVRKY>A<KKLIDWPPFEYMILATIIANCIVLALEQHL | 112 |
| CACNA1F | -KHKTVAVASAQRSPRALFCLTLANPLRRS>C<ISIVEWKPFDILILLTIFANCVALGVYIPF | 115 |
| CACNA1G | ADSEAEGLPYPALAPVVFFYLSQDSRPRSW>C<LRTVCNPWFERISMLVILLNCVTLGMFRPC | 104 |
| CACNA1H | -ADEEQRVPYPALAATVFFCLGQTTRPRSW>C<LRLVCNPWFEHVSMLVIMLNCVTLGMFRPC | 123 |
| CACNA1I | -G-ADPHVPHPDLAPIAFFCLRQTTSPRNW>C<IKMVCNPWFECVSMLVILLNCVTLGMYQPC | 102 |
| CACNA1S | -QPKKPVPEILPRPPRALFCLTLENPLRKA>C<ISIVEWKPFETIILLTIFANCVALAVYLPM | 74 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A124D | c.371C>A | Inherited Arrhythmia | BrS | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Inherited Arrhythmia | BrS | Mexiletine differentially restores the trafficking defects caused by two brugada syndrome mutations. Front Pharmacol. 2012 3:62. 22529811 | ||