No paralogue variants have been mapped to residue 320 for SCN5A.
SCN5A | ---VEADGLVWESLDLYLSD-PENYLLKNG>T<SDVLLCGNSSDAG-T-C-PEGYRCLKAGEN | 347 |
SCN1A | ---ETVFEF---DWKSYIQD-SRYHYFLEG>F<LDALLCGNSSDAG-Q-C-PEGYMCVKAGRN | 357 |
SCN2A | ---RTVSIF---NWDEYIED-KSHFYFLEG>Q<NDALLCGNSSDAG-Q-C-PEGYICVKAGRN | 359 |
SCN3A | ---VTMSTF---NWKDYIGD-DSHFYVLDG>Q<KDPLLCGNGSDAG-Q-C-PEGYICVKAGRN | 358 |
SCN4A | ASWATNDTF---DWDAYISD-EGNFYFLEG>S<NDALLCGNSSDAG-H-C-PEGYECIKTGRN | 381 |
SCN7A | ---RTG-------NPYYIRE-TENFYYLEG>E<RYALLCGNRTDAG-Q-C-PEGYVCVKAGIN | 328 |
SCN8A | ---NGTKGF---DWEEYINN-KTNFYTVPG>M<LEPLLCGNSSDAG-Q-C-PEGYQCMKAGRN | 345 |
SCN9A | ---IMNTLE---SEEDF----RKYFYYLEG>S<KDALLCGFSTDSG-Q-C-PEGYTCVKIGRN | 336 |
SCN10A | -------Y------S-SHRK-PDIYINKRG>T<SDPLLCGNGSDSG-H-C-PDGYICLKTSDN | 331 |
SCN11A | -------------PE---AY-DHCFEKKEN>S<PEFKMCGIWMGNS-A-C-SIQYECKHTKIN | 334 |
CACNA1A | -----------------------------E>-<-SPAPCGTEEPA-RT-C-PNGTKCQPYWEG | 293 |
CACNA1B | -----------------------------V>-<-GDFPCGKEAPA-RL-C-EGDTECREYWPG | 289 |
CACNA1C | -----------------------------D>-<-DPSPCALETGHGRQ-CQN-GTVCKPGWDG | 338 |
CACNA1D | -----------------------------E>-<-DPAPCAFSGNGR-Q-CTANGTECRSGWVG | 339 |
CACNA1E | -----------------------------D>-<-PPHPCGVQG------C-PAGYEC-KDWIG | 284 |
CACNA1F | -----------------------------E>-<-DPSPCASSGSGR-A-CTLNQTECRGRWPG | 305 |
CACNA1G | RSVPTLRGD---GGGGPPCG-LDYEAYNS->-<-------SSNTTC-VNWNQYYTNCSAGEHN | 329 |
CACNA1H | SHIPGRRE------LRMPCT-LGWEAYTQP>-<-QAEGVGAARNAC-INWNQYYNVCRSGDSN | 353 |
CACNA1I | HEIPPLKE------QGRECCLSKDDVYDFG>-<-AGRQDLNASGLC-VNWNRYYNVCRTGSAN | 332 |
CACNA1S | -----------------------------E>-<-EPSPCARTGSGR-R-CTINGSECRGGWPG | 267 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T320N | c.959C>A | Inherited Arrhythmia | BrS | rs199473091 | SIFT: tolerated Polyphen: benign |
Reports | 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 |