No paralogue variants have been mapped to residue 325 for SCN5A.
| SCN5A | ADGLVWESLDLYLSD-PENYLLKNGTSDVL>L<CGNSSDAG-T-C-PEGYRCLKAGENPDHGY | 352 |
| SCN1A | VFEF---DWKSYIQD-SRYHYFLEGFLDAL>L<CGNSSDAG-Q-C-PEGYMCVKAGRNPNYGY | 362 |
| SCN2A | VSIF---NWDEYIED-KSHFYFLEGQNDAL>L<CGNSSDAG-Q-C-PEGYICVKAGRNPNYGY | 364 |
| SCN3A | MSTF---NWKDYIGD-DSHFYVLDGQKDPL>L<CGNGSDAG-Q-C-PEGYICVKAGRNPNYGY | 363 |
| SCN4A | NDTF---DWDAYISD-EGNFYFLEGSNDAL>L<CGNSSDAG-H-C-PEGYECIKTGRNPNYGY | 386 |
| SCN7A | G-------NPYYIRE-TENFYYLEGERYAL>L<CGNRTDAG-Q-C-PEGYVCVKAGINPDQGF | 333 |
| SCN8A | TKGF---DWEEYINN-KTNFYTVPGMLEPL>L<CGNSSDAG-Q-C-PEGYQCMKAGRNPNYGY | 350 |
| SCN9A | NTLE---SEEDF----RKYFYYLEGSKDAL>L<CGFSTDSG-Q-C-PEGYTCVKIGRNPDYGY | 341 |
| SCN10A | --Y------S-SHRK-PDIYINKRGTSDPL>L<CGNGSDSG-H-C-PDGYICLKTSDNPDFNY | 336 |
| SCN11A | --------PE---AY-DHCFEKKENSPEFK>M<CGIWMGNS-A-C-SIQYECKHTKINPDYNY | 339 |
| CACNA1A | ------------------------E--SPA>P<CGTEEPA-RT-C-PNGTKCQPYWEGPNNGI | 298 |
| CACNA1B | ------------------------V--GDF>P<CGKEAPA-RL-C-EGDTECREYWPGPNFGI | 294 |
| CACNA1C | ------------------------D--DPS>P<CALETGHGRQ-CQN-GTVCKPGWDGPKHGI | 343 |
| CACNA1D | ------------------------E--DPA>P<CAFSGNGR-Q-CTANGTECRSGWVGPNGGI | 344 |
| CACNA1E | ------------------------D--PPH>P<CGVQG------C-PAGYEC-KDWIGPNDGI | 289 |
| CACNA1F | ------------------------E--DPS>P<CASSGSGR-A-CTLNQTECRGRWPGPNGGI | 310 |
| CACNA1G | LRGD---GGGGPPCG-LDYEAYNS------>-<--SSNTTC-VNWNQYYTNCSAGEHNPFKGA | 334 |
| CACNA1H | RRE------LRMPCT-LGWEAYTQP--QAE>G<VGAARNAC-INWNQYYNVCRSGDSNPHNGA | 358 |
| CACNA1I | LKE------QGRECCLSKDDVYDFG--AGR>Q<DLNASGLC-VNWNRYYNVCRTGSANPHKGA | 337 |
| CACNA1S | ------------------------E--EPS>P<CARTGSGR-R-CTINGSECRGGWPGPNHGI | 272 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L325R | c.974T>G | Inherited Arrhythmia | BrS | rs199473092 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Brugada syndrome and fever: genetic and molecular characterization of patients carrying SCN5A mutations. Cardiovasc Res. 2005 67(3):510-9. 15890323 | ||
| Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | |||