No paralogue variants have been mapped to residue 321 for SCN5A.
SCN5A | --VEADGLVWESLDLYLSD-PENYLLKNGT>S<DVLLCGNSSDAG-T-C-PEGYRCLKAGENP | 348 |
SCN1A | --ETVFEF---DWKSYIQD-SRYHYFLEGF>L<DALLCGNSSDAG-Q-C-PEGYMCVKAGRNP | 358 |
SCN2A | --RTVSIF---NWDEYIED-KSHFYFLEGQ>N<DALLCGNSSDAG-Q-C-PEGYICVKAGRNP | 360 |
SCN3A | --VTMSTF---NWKDYIGD-DSHFYVLDGQ>K<DPLLCGNGSDAG-Q-C-PEGYICVKAGRNP | 359 |
SCN4A | SWATNDTF---DWDAYISD-EGNFYFLEGS>N<DALLCGNSSDAG-H-C-PEGYECIKTGRNP | 382 |
SCN7A | --RTG-------NPYYIRE-TENFYYLEGE>R<YALLCGNRTDAG-Q-C-PEGYVCVKAGINP | 329 |
SCN8A | --NGTKGF---DWEEYINN-KTNFYTVPGM>L<EPLLCGNSSDAG-Q-C-PEGYQCMKAGRNP | 346 |
SCN9A | --IMNTLE---SEEDF----RKYFYYLEGS>K<DALLCGFSTDSG-Q-C-PEGYTCVKIGRNP | 337 |
SCN10A | ------Y------S-SHRK-PDIYINKRGT>S<DPLLCGNGSDSG-H-C-PDGYICLKTSDNP | 332 |
SCN11A | ------------PE---AY-DHCFEKKENS>P<EFKMCGIWMGNS-A-C-SIQYECKHTKINP | 335 |
CACNA1A | ----------------------------E->-<SPAPCGTEEPA-RT-C-PNGTKCQPYWEGP | 294 |
CACNA1B | ----------------------------V->-<GDFPCGKEAPA-RL-C-EGDTECREYWPGP | 290 |
CACNA1C | ----------------------------D->-<DPSPCALETGHGRQ-CQN-GTVCKPGWDGP | 339 |
CACNA1D | ----------------------------E->-<DPAPCAFSGNGR-Q-CTANGTECRSGWVGP | 340 |
CACNA1E | ----------------------------D->-<PPHPCGVQG------C-PAGYEC-KDWIGP | 285 |
CACNA1F | ----------------------------E->-<DPSPCASSGSGR-A-CTLNQTECRGRWPGP | 306 |
CACNA1G | SVPTLRGD---GGGGPPCG-LDYEAYNS-->-<------SSNTTC-VNWNQYYTNCSAGEHNP | 330 |
CACNA1H | HIPGRRE------LRMPCT-LGWEAYTQP->-<QAEGVGAARNAC-INWNQYYNVCRSGDSNP | 354 |
CACNA1I | EIPPLKE------QGRECCLSKDDVYDFG->-<AGRQDLNASGLC-VNWNRYYNVCRTGSANP | 333 |
CACNA1S | ----------------------------E->-<EPSPCARTGSGR-R-CTINGSECRGGWPGP | 268 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S321Y | c.962C>A | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | BrS | Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients. Biomed Res Int. 2014 2014:462609. doi: 10.1155/2014/462609. 25401102 |