No paralogue variants have been mapped to residue 1850 for SCN5A.
| SCN5A | -IAK--PNQI---SLINMDLPMVSGD-RIH>C<MDILFAFTKRVLGES--G---EMDALKIQM | 1875 |
| SCN1A | -LPQ--PNKL---QLIAMDLPMVSGD-RIH>C<LDILFAFTKRVLGES--G---EMDALRIQM | 1889 |
| SCN2A | -IAK--PNKV---QLIAMDLPMVSGD-RIH>C<LDILFAFTKRVLGES--G---EMDALRIQM | 1879 |
| SCN3A | -IAK--PNKV---QLIAMDLPMVSGD-RIH>C<LDILFAFTKRVLGES--G---EMDALRIQM | 1874 |
| SCN4A | -IAK--PNKI---KLITLDLPMVPGD-KIH>C<LDILFALTKEVLGDS--G---EMDALKQTM | 1701 |
| SCN7A | -MAK--PNKG---QLIALDLPMAVGD-RIH>C<LDILLAFTKRVMGQD--V---RMEKVVSEI | 1599 |
| SCN8A | -VPK--PNTI---ELIAMDLPMVSGD-RIH>C<LDILFAFTKRVLGDS--G---ELDILRQQM | 1869 |
| SCN9A | -IAK--PNKV---QLIAMDLPMVSGD-RIH>C<LDILFAFTKRVLGES--G---EMDSLRSQM | 1852 |
| SCN10A | -IPK--PNRN---ILIQMDLPLVPGD-KIH>C<LDILFAFTKNVLGES--G---ELDSLKANM | 1825 |
| SCN11A | -VAK--PNKY---QFLVMDLPMVSED-RLH>C<MDILFAFTARVLGGS--D---GLDSMKAMM | 1707 |
| CACNA1A | -LGKKCPHRVACKRLLRMDLPVADD-NTVH>F<NSTLMALIRTALDIKIAKGGADKQQMDAEL | 1923 |
| CACNA1B | -LGKKCPARVAYKRLVRMNMPISNEDMTVH>F<TSTLMALIRTALEIKLAPAGTKQHQCDAEL | 1822 |
| CACNA1C | -FGKLCPHRVACKRLVSMNMPLNSDG-TVM>F<NATLFALVRTALRIKTEG---NLEQANEEL | 1585 |
| CACNA1D | -FGKLCPHRVACKRLVAMNMPLNSDG-TVM>F<NATLFALVRTALKIKTEG---NLEQANEEL | 1593 |
| CACNA1E | -LGKRCPSKVAYKRLVLMNMPVAED-MTVH>F<TSTLMALIRTALDIKIAKGGADRQQLDSEL | 1835 |
| CACNA1F | -FGKLCPHRVACKRLVAMNMPLNSDG-TVT>F<NATLFALVRTSLKIKTEG---NLEQANQEL | 1550 |
| CACNA1G | -PDSPKPGAL---------HPAAHA-RSAS>H<FSLEHPTDRQLFDTI---S--LLIQGSLEW | 1945 |
| CACNA1H | -QESPG--AR--------DAPN-------->-<------LVARKV----------------SV | 1921 |
| CACNA1I | GGGGDT--EG---GLCRRCYSPAQE-N--L>W<LDSVSLIIKDSL----------------EG | 1816 |
| CACNA1S | -FGKFCPHRVACKRLVGMNMPLNSDG-TVT>F<NATLFALVRTALKIKTEG---NFEQANEEL | 1490 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.C1850S | c.5549G>C | Inherited Arrhythmia | BrS | rs199473322 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome. Cardiovasc Res. 2008 78(3):494-504. 18252757 | ||