Paralogue Annotation for SCN5A residue 294

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 294
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 294

No paralogue variants have been mapped to residue 294 for SCN5A.



SCN5A--G-TN-------------GS--------->V<EADGLVWESLDLYLSD-PENYLLKNGTSDV323
SCN1A--G-TL-------------IN--------->E<TVFEF---DWKSYIQD-SRYHYFLEGFLDA333
SCN2A--G-TT-------------FN--------->R<TVSIF---NWDEYIED-KSHFYFLEGQNDA335
SCN3A--G-TF-------------VN--------->V<TMSTF---NWKDYIGD-DSHFYVLDGQKDP334
SCN4A--D-TWYGNEMWYGNDSWYANDTWNSHASW>A<TNDTF---DWDAYISD-EGNFYFLEGSNDA357
SCN7A--E-TLH-------------N--------->R<TG-------NPYYIRE-TENFYYLEGERYA304
SCN8A--E-SY-------------LE--------->N<GTKGF---DWEEYINN-KTNFYTVPGMLEP321
SCN9A--E-TL-------------ES--------->I<MNTLE---SEEDF----RKYFYYLEGSKDA312
SCN10A--E-TTN----------------------->-<---Y------S-SHRK-PDIYINKRGTSDP307
SCN11A--I-SN------------------------>-<---------PE---AY-DHCFEKKENSPEF310
CACNA1A--G--------------------------->-<-------------------------E--SP269
CACNA1B--P--------------------------->-<-------------------------V--GD265
CACNA1C--E--------------------------->-<-------------------------D--DP313
CACNA1D--E--------------------------->-<-------------------------E--DP314
CACNA1E--F--------------------------->-<-------------------------D--PP265
CACNA1F--E--------------------------->-<-------------------------E--DP280
CACNA1G--DESPFICSQPRENG-------MRSCRSV>P<TLRGD---GGGGPPCG-LDYEAYNS-----307
CACNA1H--EENPFICSSRRDNG-------MQKCSHI>P<GRRE------LRMPCT-LGWEAYTQP--QA327
CACNA1I--DEMPFICSLSGDNG-------IMGCHEI>P<PLKE------QGRECCLSKDDVYDFG--AG306
CACNA1SVEN--------------------------->-<-------------------------E--EP242
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V294Mc.880G>A Inherited ArrhythmiaBrSrs199473086SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaBrS Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046
Inherited ArrhythmiaBrS 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