Paralogue Annotation for SCN5A residue 298

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 298
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 298

No paralogue variants have been mapped to residue 298 for SCN5A.



SCN5ATN-------------GS---------VEAD>G<LVWESLDLYLSD-PENYLLKNGTSDVLLCG327
SCN1ATL-------------IN---------ETVF>E<F---DWKSYIQD-SRYHYFLEGFLDALLCG337
SCN2ATT-------------FN---------RTVS>I<F---NWDEYIED-KSHFYFLEGQNDALLCG339
SCN3ATF-------------VN---------VTMS>T<F---NWKDYIGD-DSHFYVLDGQKDPLLCG338
SCN4ATWYGNEMWYGNDSWYANDTWNSHASWATND>T<F---DWDAYISD-EGNFYFLEGSNDALLCG361
SCN7ATLH-------------N---------RTG->-<-----NPYYIRE-TENFYYLEGERYALLCG308
SCN8ASY-------------LE---------NGTK>G<F---DWEEYINN-KTNFYTVPGMLEPLLCG325
SCN9ATL-------------ES---------IMNT>L<E---SEEDF----RKYFYYLEGSKDALLCG316
SCN10ATTN--------------------------->Y<------S-SHRK-PDIYINKRGTSDPLLCG311
SCN11ASN---------------------------->-<-----PE---AY-DHCFEKKENSPEFKMCG314
CACNA1A------------------------------>-<---------------------E--SPAPCG273
CACNA1B------------------------------>-<---------------------V--GDFPCG269
CACNA1C------------------------------>-<---------------------D--DPSPCA317
CACNA1D------------------------------>-<---------------------E--DPAPCA318
CACNA1E------------------------------>-<---------------------D--PPHPCG269
CACNA1F------------------------------>-<---------------------E--DPSPCA284
CACNA1GSPFICSQPRENG-------MRSCRSVPTLR>G<D---GGGGPPCG-LDYEAYNS---------307
CACNA1HNPFICSSRRDNG-------MQKCSHIPGRR>E<------LRMPCT-LGWEAYTQP--QAEGVG331
CACNA1IMPFICSLSGDNG-------IMGCHEIPPLK>E<------QGRECCLSKDDVYDFG--AGRQDL310
CACNA1S------------------------------>-<---------------------E--EPSPCA246
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G298Sc.892G>A Other Cardiac PhenotypeSIFT: tolerated
Polyphen: benign
ReportsOther Cardiac Phenotype Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation. 2002 105(3):341-6. 11804990
Other Cardiac Phenotype Sodium channel mutation in irritable bowel syndrome: evidence for an ion channelopathy. Am J Physiol Gastrointest Liver Physiol. 2009 296(2):G211-8. 19056759
p.G298Dc.893G>A Putative BenignSIFT:
Polyphen: