Paralogue Annotation for SCN5A residue 315

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 315
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 315

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY325CMyoclonic epilepsy of infancyMedium7 23821540
SCN1AY325XDravet syndromeMedium7 23821540

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5A--------VEADGLVWESLDLYLSD-PENY>L<LKNGTSDVLLCGNSSDAG-T-C-PEGYRCL342
SCN1A--------ETVFEF---DWKSYIQD-SRYH>Y<FLEGFLDALLCGNSSDAG-Q-C-PEGYMCV352
SCN2A--------RTVSIF---NWDEYIED-KSHF>Y<FLEGQNDALLCGNSSDAG-Q-C-PEGYICV354
SCN3A--------VTMSTF---NWKDYIGD-DSHF>Y<VLDGQKDPLLCGNGSDAG-Q-C-PEGYICV353
SCN4ATWNSHASWATNDTF---DWDAYISD-EGNF>Y<FLEGSNDALLCGNSSDAG-H-C-PEGYECI376
SCN7A--------RTG-------NPYYIRE-TENF>Y<YLEGERYALLCGNRTDAG-Q-C-PEGYVCV323
SCN8A--------NGTKGF---DWEEYINN-KTNF>Y<TVPGMLEPLLCGNSSDAG-Q-C-PEGYQCM340
SCN9A--------IMNTLE---SEEDF----RKYF>Y<YLEGSKDALLCGFSTDSG-Q-C-PEGYTCV331
SCN10A------------Y------S-SHRK-PDIY>I<NKRGTSDPLLCGNGSDSG-H-C-PDGYICL326
SCN11A------------------PE---AY-DHCF>E<KKENSPEFKMCGIWMGNS-A-C-SIQYECK329
CACNA1A------------------------------>-<---E--SPAPCGTEEPA-RT-C-PNGTKCQ288
CACNA1B------------------------------>-<---V--GDFPCGKEAPA-RL-C-EGDTECR284
CACNA1C------------------------------>-<---D--DPSPCALETGHGRQ-CQN-GTVCK333
CACNA1D------------------------------>-<---E--DPAPCAFSGNGR-Q-CTANGTECR334
CACNA1E------------------------------>-<---D--PPHPCGVQG------C-PAGYEC-279
CACNA1F------------------------------>-<---E--DPSPCASSGSGR-A-CTLNQTECR300
CACNA1G-MRSCRSVPTLRGD---GGGGPPCG-LDYE>A<YNS---------SSNTTC-VNWNQYYTNCS324
CACNA1H-MQKCSHIPGRRE------LRMPCT-LGWE>A<YTQP--QAEGVGAARNAC-INWNQYYNVCR348
CACNA1I-IMGCHEIPPLKE------QGRECCLSKDD>V<YDFG--AGRQDLNASGLC-VNWNRYYNVCR327
CACNA1S------------------------------>-<---E--EPSPCARTGSGR-R-CTINGSECR262
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L315Pc.944T>C Inherited ArrhythmiaBrSSIFT: deleterious
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