No paralogue variants have been mapped to residue 319 for SCN5A.
| SCN5A | ----VEADGLVWESLDLYLSD-PENYLLKN>G<TSDVLLCGNSSDAG-T-C-PEGYRCLKAGE | 346 |
| SCN1A | ----ETVFEF---DWKSYIQD-SRYHYFLE>G<FLDALLCGNSSDAG-Q-C-PEGYMCVKAGR | 356 |
| SCN2A | ----RTVSIF---NWDEYIED-KSHFYFLE>G<QNDALLCGNSSDAG-Q-C-PEGYICVKAGR | 358 |
| SCN3A | ----VTMSTF---NWKDYIGD-DSHFYVLD>G<QKDPLLCGNGSDAG-Q-C-PEGYICVKAGR | 357 |
| SCN4A | HASWATNDTF---DWDAYISD-EGNFYFLE>G<SNDALLCGNSSDAG-H-C-PEGYECIKTGR | 380 |
| SCN7A | ----RTG-------NPYYIRE-TENFYYLE>G<ERYALLCGNRTDAG-Q-C-PEGYVCVKAGI | 327 |
| SCN8A | ----NGTKGF---DWEEYINN-KTNFYTVP>G<MLEPLLCGNSSDAG-Q-C-PEGYQCMKAGR | 344 |
| SCN9A | ----IMNTLE---SEEDF----RKYFYYLE>G<SKDALLCGFSTDSG-Q-C-PEGYTCVKIGR | 335 |
| SCN10A | --------Y------S-SHRK-PDIYINKR>G<TSDPLLCGNGSDSG-H-C-PDGYICLKTSD | 330 |
| SCN11A | --------------PE---AY-DHCFEKKE>N<SPEFKMCGIWMGNS-A-C-SIQYECKHTKI | 333 |
| CACNA1A | ------------------------------>E<--SPAPCGTEEPA-RT-C-PNGTKCQPYWE | 292 |
| CACNA1B | ------------------------------>V<--GDFPCGKEAPA-RL-C-EGDTECREYWP | 288 |
| CACNA1C | ------------------------------>D<--DPSPCALETGHGRQ-CQN-GTVCKPGWD | 337 |
| CACNA1D | ------------------------------>E<--DPAPCAFSGNGR-Q-CTANGTECRSGWV | 338 |
| CACNA1E | ------------------------------>D<--PPHPCGVQG------C-PAGYEC-KDWI | 283 |
| CACNA1F | ------------------------------>E<--DPSPCASSGSGR-A-CTLNQTECRGRWP | 304 |
| CACNA1G | CRSVPTLRGD---GGGGPPCG-LDYEAYNS>-<--------SSNTTC-VNWNQYYTNCSAGEH | 328 |
| CACNA1H | CSHIPGRRE------LRMPCT-LGWEAYTQ>P<--QAEGVGAARNAC-INWNQYYNVCRSGDS | 352 |
| CACNA1I | CHEIPPLKE------QGRECCLSKDDVYDF>G<--AGRQDLNASGLC-VNWNRYYNVCRTGSA | 331 |
| CACNA1S | ------------------------------>E<--EPSPCARTGSGR-R-CTINGSECRGGWP | 266 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G319S | c.955G>A | Inherited Arrhythmia | BrS | rs199473090 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation. 2000 102(20):2509-15. 11076825 | ||
| Inherited Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | |||
| Other Cardiac Phenotype | High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia. Clin Genet. 2006 69(6):504-11. 16712702 | ||||