Paralogue Annotation for SCN5A residue 304

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 304
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 304

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AW314RMyoclonic-astatic epilepsy ?Medium4 21248271
SCN1AW314GGeneralized epilepsy with febrile seizures plusMedium4 26802095

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---------GS---------VEADGLVWES>L<DLYLSD-PENYLLKNGTSDVLLCGNSSDAG333
SCN1A---------IN---------ETVFEF---D>W<KSYIQD-SRYHYFLEGFLDALLCGNSSDAG343
SCN2A---------FN---------RTVSIF---N>W<DEYIED-KSHFYFLEGQNDALLCGNSSDAG345
SCN3A---------VN---------VTMSTF---N>W<KDYIGD-DSHFYVLDGQKDPLLCGNGSDAG344
SCN4AMWYGNDSWYANDTWNSHASWATNDTF---D>W<DAYISD-EGNFYFLEGSNDALLCGNSSDAG367
SCN7A----------N---------RTG------->N<PYYIRE-TENFYYLEGERYALLCGNRTDAG314
SCN8A---------LE---------NGTKGF---D>W<EEYINN-KTNFYTVPGMLEPLLCGNSSDAG331
SCN9A---------ES---------IMNTLE---S>E<EDF----RKYFYYLEGSKDALLCGFSTDSG322
SCN10A------------------------Y----->-<S-SHRK-PDIYINKRGTSDPLLCGNGSDSG317
SCN11A------------------------------>P<E---AY-DHCFEKKENSPEFKMCGIWMGNS320
CACNA1A------------------------------>-<---------------E--SPAPCGTEEPA-278
CACNA1B------------------------------>-<---------------V--GDFPCGKEAPA-274
CACNA1C------------------------------>-<---------------D--DPSPCALETGHG323
CACNA1D------------------------------>-<---------------E--DPAPCAFSGNGR324
CACNA1E------------------------------>-<---------------D--PPHPCGVQG---272
CACNA1F------------------------------>-<---------------E--DPSPCASSGSGR290
CACNA1GQPRENG-------MRSCRSVPTLRGD---G>G<GGPPCG-LDYEAYNS---------SSNTTC313
CACNA1HSRRDNG-------MQKCSHIPGRRE----->-<LRMPCT-LGWEAYTQP--QAEGVGAARNAC337
CACNA1ILSGDNG-------IMGCHEIPPLKE----->-<QGRECCLSKDDVYDFG--AGRQDLNASGLC316
CACNA1S------------------------------>-<---------------E--EPSPCARTGSGR252
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 304 for SCN5A.