No paralogue variants have been mapped to residue 336 for SCN5A.
| SCN5A | D-PENYLLKNGTSDVLLCGNSSDAG-T-C->P<EGYRCLKAGENPDHGYTSFDSFAWAFLALF | 366 |
| SCN1A | D-SRYHYFLEGFLDALLCGNSSDAG-Q-C->P<EGYMCVKAGRNPNYGYTSFDTFSWAFLSLF | 376 |
| SCN2A | D-KSHFYFLEGQNDALLCGNSSDAG-Q-C->P<EGYICVKAGRNPNYGYTSFDTFSWAFLSLF | 378 |
| SCN3A | D-DSHFYVLDGQKDPLLCGNGSDAG-Q-C->P<EGYICVKAGRNPNYGYTSFDTFSWAFLSLF | 377 |
| SCN4A | D-EGNFYFLEGSNDALLCGNSSDAG-H-C->P<EGYECIKTGRNPNYGYTSYDTFSWAFLALF | 400 |
| SCN7A | E-TENFYYLEGERYALLCGNRTDAG-Q-C->P<EGYVCVKAGINPDQGFTNFDSFGWALFALF | 347 |
| SCN8A | N-KTNFYTVPGMLEPLLCGNSSDAG-Q-C->P<EGYQCMKAGRNPNYGYTSFDTFSWAFLALF | 364 |
| SCN9A | --RKYFYYLEGSKDALLCGFSTDSG-Q-C->P<EGYTCVKIGRNPDYGYTSFDTFSWAFLALF | 355 |
| SCN10A | K-PDIYINKRGTSDPLLCGNGSDSG-H-C->P<DGYICLKTSDNPDFNYTSFDSFAWAFLSLF | 350 |
| SCN11A | Y-DHCFEKKENSPEFKMCGIWMGNS-A-C->S<IQYECKHTKINPDYNYTNFDNFGWSFLAMF | 353 |
| CACNA1A | ----------E--SPAPCGTEEPA-RT-C->P<NGTKCQPYWEGPNNGITQFDNILFAVLTVF | 312 |
| CACNA1B | ----------V--GDFPCGKEAPA-RL-C->E<GDTECREYWPGPNFGITNFDNILFAILTVF | 308 |
| CACNA1C | ----------D--DPSPCALETGHGRQ-CQ>N<-GTVCKPGWDGPKHGITNFDNFAFAMLTVF | 357 |
| CACNA1D | ----------E--DPAPCAFSGNGR-Q-CT>A<NGTECRSGWVGPNGGITNFDNFAFAMLTVF | 358 |
| CACNA1E | ----------D--PPHPCGVQG------C->P<AGYEC-KDWIGPNDGITQFDNILFAVLTVF | 303 |
| CACNA1F | ----------E--DPSPCASSGSGR-A-CT>L<NQTECRGRWPGPNGGITNFDNFFFAMLTVF | 324 |
| CACNA1G | G-LDYEAYNS---------SSNTTC-VNWN>Q<YYTNCSAGEHNPFKGAINFDNIGYAWIAIF | 348 |
| CACNA1H | T-LGWEAYTQP--QAEGVGAARNAC-INWN>Q<YYNVCRSGDSNPHNGAINFDNIGYAWIAIF | 372 |
| CACNA1I | CLSKDDVYDFG--AGRQDLNASGLC-VNWN>R<YYNVCRTGSANPHKGAINFDNIGYAWIVIF | 351 |
| CACNA1S | ----------E--EPSPCARTGSGR-R-CT>I<NGSECRGGWPGPNHGITHFDNFGFSMLTVY | 286 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P336L | c.1007C>T | Inherited Arrhythmia | BrS | rs199473093 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Compound heterozygous mutations P336L and I1660V in the human cardiac sodium channel associated with the Brugada syndrome. Circulation. 2006 114(19):2026-33. 17075016 | ||
| 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 | |||