Paralogue Annotation for SCN5A residue 312

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 312
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 312

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AR322IMyoclonic epilepsy of infancyMedium4 17561957

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.



SCN5AGS---------VEADGLVWESLDLYLSD-P>E<NYLLKNGTSDVLLCGNSSDAG-T-C-PEGY339
SCN1AIN---------ETVFEF---DWKSYIQD-S>R<YHYFLEGFLDALLCGNSSDAG-Q-C-PEGY349
SCN2AFN---------RTVSIF---NWDEYIED-K>S<HFYFLEGQNDALLCGNSSDAG-Q-C-PEGY351
SCN3AVN---------VTMSTF---NWKDYIGD-D>S<HFYVLDGQKDPLLCGNGSDAG-Q-C-PEGY350
SCN4AANDTWNSHASWATNDTF---DWDAYISD-E>G<NFYFLEGSNDALLCGNSSDAG-H-C-PEGY373
SCN7A-N---------RTG-------NPYYIRE-T>E<NFYYLEGERYALLCGNRTDAG-Q-C-PEGY320
SCN8ALE---------NGTKGF---DWEEYINN-K>T<NFYTVPGMLEPLLCGNSSDAG-Q-C-PEGY337
SCN9AES---------IMNTLE---SEEDF----R>K<YFYYLEGSKDALLCGFSTDSG-Q-C-PEGY328
SCN10A---------------Y------S-SHRK-P>D<IYINKRGTSDPLLCGNGSDSG-H-C-PDGY323
SCN11A---------------------PE---AY-D>H<CFEKKENSPEFKMCGIWMGNS-A-C-SIQY326
CACNA1A------------------------------>-<------E--SPAPCGTEEPA-RT-C-PNGT285
CACNA1B------------------------------>-<------V--GDFPCGKEAPA-RL-C-EGDT281
CACNA1C------------------------------>-<------D--DPSPCALETGHGRQ-CQN-GT330
CACNA1D------------------------------>-<------E--DPAPCAFSGNGR-Q-CTANGT331
CACNA1E------------------------------>-<------D--PPHPCGVQG------C-PAGY277
CACNA1F------------------------------>-<------E--DPSPCASSGSGR-A-CTLNQT297
CACNA1G----MRSCRSVPTLRGD---GGGGPPCG-L>D<YEAYNS---------SSNTTC-VNWNQYYT321
CACNA1H----MQKCSHIPGRRE------LRMPCT-L>G<WEAYTQP--QAEGVGAARNAC-INWNQYYN345
CACNA1I----IMGCHEIPPLKE------QGRECCLS>K<DDVYDFG--AGRQDLNASGLC-VNWNRYYN324
CACNA1S------------------------------>-<------E--EPSPCARTGSGR-R-CTINGS259
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 312 for SCN5A.