Paralogue Annotation for SCN5A residue 320

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 320
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 320

No paralogue variants have been mapped to residue 320 for SCN5A.



SCN5A---VEADGLVWESLDLYLSD-PENYLLKNG>T<SDVLLCGNSSDAG-T-C-PEGYRCLKAGEN347
SCN1A---ETVFEF---DWKSYIQD-SRYHYFLEG>F<LDALLCGNSSDAG-Q-C-PEGYMCVKAGRN357
SCN2A---RTVSIF---NWDEYIED-KSHFYFLEG>Q<NDALLCGNSSDAG-Q-C-PEGYICVKAGRN359
SCN3A---VTMSTF---NWKDYIGD-DSHFYVLDG>Q<KDPLLCGNGSDAG-Q-C-PEGYICVKAGRN358
SCN4AASWATNDTF---DWDAYISD-EGNFYFLEG>S<NDALLCGNSSDAG-H-C-PEGYECIKTGRN381
SCN7A---RTG-------NPYYIRE-TENFYYLEG>E<RYALLCGNRTDAG-Q-C-PEGYVCVKAGIN328
SCN8A---NGTKGF---DWEEYINN-KTNFYTVPG>M<LEPLLCGNSSDAG-Q-C-PEGYQCMKAGRN345
SCN9A---IMNTLE---SEEDF----RKYFYYLEG>S<KDALLCGFSTDSG-Q-C-PEGYTCVKIGRN336
SCN10A-------Y------S-SHRK-PDIYINKRG>T<SDPLLCGNGSDSG-H-C-PDGYICLKTSDN331
SCN11A-------------PE---AY-DHCFEKKEN>S<PEFKMCGIWMGNS-A-C-SIQYECKHTKIN334
CACNA1A-----------------------------E>-<-SPAPCGTEEPA-RT-C-PNGTKCQPYWEG293
CACNA1B-----------------------------V>-<-GDFPCGKEAPA-RL-C-EGDTECREYWPG289
CACNA1C-----------------------------D>-<-DPSPCALETGHGRQ-CQN-GTVCKPGWDG338
CACNA1D-----------------------------E>-<-DPAPCAFSGNGR-Q-CTANGTECRSGWVG339
CACNA1E-----------------------------D>-<-PPHPCGVQG------C-PAGYEC-KDWIG284
CACNA1F-----------------------------E>-<-DPSPCASSGSGR-A-CTLNQTECRGRWPG305
CACNA1GRSVPTLRGD---GGGGPPCG-LDYEAYNS->-<-------SSNTTC-VNWNQYYTNCSAGEHN329
CACNA1HSHIPGRRE------LRMPCT-LGWEAYTQP>-<-QAEGVGAARNAC-INWNQYYNVCRSGDSN353
CACNA1IHEIPPLKE------QGRECCLSKDDVYDFG>-<-AGRQDLNASGLC-VNWNRYYNVCRTGSAN332
CACNA1S-----------------------------E>-<-EPSPCARTGSGR-R-CTINGSECRGGWPG267
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T320Nc.959C>A Inherited ArrhythmiaBrSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaBrS 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