Paralogue Annotation for SCN5A residue 346

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 346
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 346

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AR356GMyoclonic epilepsy of infancyMedium9 17561957
SCN3AR357QEpilepsy, focalMedium9 24157691

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.



SCN5AGTSDVLLCGNSSDAG-T-C-PEGYRCLKAG>E<NPDHGYTSFDSFAWAFLALFRLMTQDCWER376
SCN1AGFLDALLCGNSSDAG-Q-C-PEGYMCVKAG>R<NPNYGYTSFDTFSWAFLSLFRLMTQDFWEN386
SCN2AGQNDALLCGNSSDAG-Q-C-PEGYICVKAG>R<NPNYGYTSFDTFSWAFLSLFRLMTQDFWEN388
SCN3AGQKDPLLCGNGSDAG-Q-C-PEGYICVKAG>R<NPNYGYTSFDTFSWAFLSLFRLMTQDYWEN387
SCN4AGSNDALLCGNSSDAG-H-C-PEGYECIKTG>R<NPNYGYTSYDTFSWAFLALFRLMTQDYWEN410
SCN7AGERYALLCGNRTDAG-Q-C-PEGYVCVKAG>I<NPDQGFTNFDSFGWALFALFRLMAQDYPEV357
SCN8AGMLEPLLCGNSSDAG-Q-C-PEGYQCMKAG>R<NPNYGYTSFDTFSWAFLALFRLMTQDYWEN374
SCN9AGSKDALLCGFSTDSG-Q-C-PEGYTCVKIG>R<NPDYGYTSFDTFSWAFLALFRLMTQDYWEN365
SCN10AGTSDPLLCGNGSDSG-H-C-PDGYICLKTS>D<NPDFNYTSFDSFAWAFLSLFRLMTQDSWER360
SCN11ANSPEFKMCGIWMGNS-A-C-SIQYECKHTK>I<NPDYNYTNFDNFGWSFLAMFRLMTQDSWEK363
CACNA1AE--SPAPCGTEEPA-RT-C-PNGTKCQPYW>E<GPNNGITQFDNILFAVLTVFQCITMEGWTD322
CACNA1BV--GDFPCGKEAPA-RL-C-EGDTECREYW>P<GPNFGITNFDNILFAILTVFQCITMEGWTD318
CACNA1CD--DPSPCALETGHGRQ-CQN-GTVCKPGW>D<GPKHGITNFDNFAFAMLTVFQCITMEGWTD367
CACNA1DE--DPAPCAFSGNGR-Q-CTANGTECRSGW>V<GPNGGITNFDNFAFAMLTVFQCITMEGWTD368
CACNA1ED--PPHPCGVQG------C-PAGYEC-KDW>I<GPNDGITQFDNILFAVLTVFQCITMEGWTT313
CACNA1FE--DPSPCASSGSGR-A-CTLNQTECRGRW>P<GPNGGITNFDNFFFAMLTVFQCVTMEGWTD334
CACNA1G---------SSNTTC-VNWNQYYTNCSAGE>H<NPFKGAINFDNIGYAWIAIFQVITLEGWVD358
CACNA1HP--QAEGVGAARNAC-INWNQYYNVCRSGD>S<NPHNGAINFDNIGYAWIAIFQVITLEGWVD382
CACNA1IG--AGRQDLNASGLC-VNWNRYYNVCRTGS>A<NPHKGAINFDNIGYAWIVIFQVITLEGWVE361
CACNA1SE--EPSPCARTGSGR-R-CTINGSECRGGW>P<GPNHGITHFDNFGFSMLTVYQCITMEGWTD296
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E346Kc.1036G>A Putative BenignSIFT: tolerated
Polyphen: benign
p.E346Gc.1037A>G Putative BenignSIFT:
Polyphen: