Paralogue Annotation for SCN5A residue 300

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 300
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 300

No paralogue variants have been mapped to residue 300 for SCN5A.



SCN5A-------------GS---------VEADGL>V<WESLDLYLSD-PENYLLKNGTSDVLLCGNS329
SCN1A-------------IN---------ETVFEF>-<--DWKSYIQD-SRYHYFLEGFLDALLCGNS339
SCN2A-------------FN---------RTVSIF>-<--NWDEYIED-KSHFYFLEGQNDALLCGNS341
SCN3A-------------VN---------VTMSTF>-<--NWKDYIGD-DSHFYVLDGQKDPLLCGNG340
SCN4AYGNEMWYGNDSWYANDTWNSHASWATNDTF>-<--DWDAYISD-EGNFYFLEGSNDALLCGNS363
SCN7AH-------------N---------RTG--->-<---NPYYIRE-TENFYYLEGERYALLCGNR310
SCN8A-------------LE---------NGTKGF>-<--DWEEYINN-KTNFYTVPGMLEPLLCGNS327
SCN9A-------------ES---------IMNTLE>-<--SEEDF----RKYFYYLEGSKDALLCGFS318
SCN10AN---------------------------Y->-<----S-SHRK-PDIYINKRGTSDPLLCGNG313
SCN11A------------------------------>-<---PE---AY-DHCFEKKENSPEFKMCGIW316
CACNA1A------------------------------>-<-------------------E--SPAPCGTE275
CACNA1B------------------------------>-<-------------------V--GDFPCGKE271
CACNA1C------------------------------>-<-------------------D--DPSPCALE319
CACNA1D------------------------------>-<-------------------E--DPAPCAFS320
CACNA1E------------------------------>-<-------------------D--PPHPCGVQ271
CACNA1F------------------------------>-<-------------------E--DPSPCASS286
CACNA1GFICSQPRENG-------MRSCRSVPTLRGD>-<--GGGGPPCG-LDYEAYNS---------SS309
CACNA1HFICSSRRDNG-------MQKCSHIPGRRE->-<----LRMPCT-LGWEAYTQP--QAEGVGAA333
CACNA1IFICSLSGDNG-------IMGCHEIPPLKE->-<----QGRECCLSKDDVYDFG--AGRQDLNA312
CACNA1S------------------------------>-<-------------------E--EPSPCART248
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V300Ic.898G>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
Inherited ArrhythmiaBrS Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395