Paralogue Annotation for SCN5A residue 299

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 299
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 299

No paralogue variants have been mapped to residue 299 for SCN5A.



SCN5AN-------------GS---------VEADG>L<VWESLDLYLSD-PENYLLKNGTSDVLLCGN328
SCN1AL-------------IN---------ETVFE>F<---DWKSYIQD-SRYHYFLEGFLDALLCGN338
SCN2AT-------------FN---------RTVSI>F<---NWDEYIED-KSHFYFLEGQNDALLCGN340
SCN3AF-------------VN---------VTMST>F<---NWKDYIGD-DSHFYVLDGQKDPLLCGN339
SCN4AWYGNEMWYGNDSWYANDTWNSHASWATNDT>F<---DWDAYISD-EGNFYFLEGSNDALLCGN362
SCN7ALH-------------N---------RTG-->-<----NPYYIRE-TENFYYLEGERYALLCGN309
SCN8AY-------------LE---------NGTKG>F<---DWEEYINN-KTNFYTVPGMLEPLLCGN326
SCN9AL-------------ES---------IMNTL>E<---SEEDF----RKYFYYLEGSKDALLCGF317
SCN10ATN---------------------------Y>-<-----S-SHRK-PDIYINKRGTSDPLLCGN312
SCN11AN----------------------------->-<----PE---AY-DHCFEKKENSPEFKMCGI315
CACNA1A------------------------------>-<--------------------E--SPAPCGT274
CACNA1B------------------------------>-<--------------------V--GDFPCGK270
CACNA1C------------------------------>-<--------------------D--DPSPCAL318
CACNA1D------------------------------>-<--------------------E--DPAPCAF319
CACNA1E------------------------------>-<--------------------D--PPHPCGV270
CACNA1F------------------------------>-<--------------------E--DPSPCAS285
CACNA1GPFICSQPRENG-------MRSCRSVPTLRG>D<---GGGGPPCG-LDYEAYNS---------S308
CACNA1HPFICSSRRDNG-------MQKCSHIPGRRE>-<-----LRMPCT-LGWEAYTQP--QAEGVGA332
CACNA1IPFICSLSGDNG-------IMGCHEIPPLKE>-<-----QGRECCLSKDDVYDFG--AGRQDLN311
CACNA1S------------------------------>-<--------------------E--EPSPCAR247
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L299Mc.895T>A Putative Benignrs199473087SIFT: tolerated
Polyphen: benign
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Putative Benign 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
p.L299Fc.897G>C Putative BenignSIFT:
Polyphen: