No paralogue variants have been mapped to residue 317 for SCN5A.
| SCN5A | ------VEADGLVWESLDLYLSD-PENYLL>K<NGTSDVLLCGNSSDAG-T-C-PEGYRCLKA | 344 |
| SCN1A | ------ETVFEF---DWKSYIQD-SRYHYF>L<EGFLDALLCGNSSDAG-Q-C-PEGYMCVKA | 354 |
| SCN2A | ------RTVSIF---NWDEYIED-KSHFYF>L<EGQNDALLCGNSSDAG-Q-C-PEGYICVKA | 356 |
| SCN3A | ------VTMSTF---NWKDYIGD-DSHFYV>L<DGQKDPLLCGNGSDAG-Q-C-PEGYICVKA | 355 |
| SCN4A | NSHASWATNDTF---DWDAYISD-EGNFYF>L<EGSNDALLCGNSSDAG-H-C-PEGYECIKT | 378 |
| SCN7A | ------RTG-------NPYYIRE-TENFYY>L<EGERYALLCGNRTDAG-Q-C-PEGYVCVKA | 325 |
| SCN8A | ------NGTKGF---DWEEYINN-KTNFYT>V<PGMLEPLLCGNSSDAG-Q-C-PEGYQCMKA | 342 |
| SCN9A | ------IMNTLE---SEEDF----RKYFYY>L<EGSKDALLCGFSTDSG-Q-C-PEGYTCVKI | 333 |
| SCN10A | ----------Y------S-SHRK-PDIYIN>K<RGTSDPLLCGNGSDSG-H-C-PDGYICLKT | 328 |
| SCN11A | ----------------PE---AY-DHCFEK>K<ENSPEFKMCGIWMGNS-A-C-SIQYECKHT | 331 |
| CACNA1A | ------------------------------>-<-E--SPAPCGTEEPA-RT-C-PNGTKCQPY | 290 |
| CACNA1B | ------------------------------>-<-V--GDFPCGKEAPA-RL-C-EGDTECREY | 286 |
| CACNA1C | ------------------------------>-<-D--DPSPCALETGHGRQ-CQN-GTVCKPG | 335 |
| CACNA1D | ------------------------------>-<-E--DPAPCAFSGNGR-Q-CTANGTECRSG | 336 |
| CACNA1E | ------------------------------>-<-D--PPHPCGVQG------C-PAGYEC-KD | 281 |
| CACNA1F | ------------------------------>-<-E--DPSPCASSGSGR-A-CTLNQTECRGR | 302 |
| CACNA1G | RSCRSVPTLRGD---GGGGPPCG-LDYEAY>N<S---------SSNTTC-VNWNQYYTNCSAG | 326 |
| CACNA1H | QKCSHIPGRRE------LRMPCT-LGWEAY>T<QP--QAEGVGAARNAC-INWNQYYNVCRSG | 350 |
| CACNA1I | MGCHEIPPLKE------QGRECCLSKDDVY>D<FG--AGRQDLNASGLC-VNWNRYYNVCRTG | 329 |
| CACNA1S | ------------------------------>-<-E--EPSPCARTGSGR-R-CTINGSECRGG | 264 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K317N | c.951G>C | Inherited Arrhythmia | BrS | rs199473089 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | BrS | [PCR-based site-directed mutagenesis and recombinant expression plasmid construction of a SCN5A mutation (K317N) identified in a Chinese family with Brugada syndrome]. Di Yi Jun Yi Da Xue Xue Bao. 2003 23(11):1139-42. 14625171 | ||
| p.K317E | c.949A>G | Putative Benign | SIFT: Polyphen: | ||