Paralogue Annotation for SCN5A residue 410

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 410
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 410

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1CG402STimothy syndromeMedium9 15863612, 21685391, 23979604, 24773605, 25691416
CACNA1FG369DNight blindness, congenital stationary, incompleteMedium9 9662399, 14973233, 15634789
SCN1AA420VGeneralized epilepsy with febrile seizures plusHigh9 22944210, 26096185
CACNA1DG403DPrimary aldosteronismMedium9 23913001
SCN8AA408TEpileptic encephalopathy, early infantile with movHigh9 26993267

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.



SCN5ATLRSAGKIY-MIFFMLVIFLGSFYLVNLIL>A<VVAMAYEEQNQATIAETEEK-EKRFQEAME439
SCN1ATLRAAGKTY-MIFFVLVIFLGSFYLINLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFQQMIE449
SCN2ATLRAAGKTY-MIFFVLVIFLGSFYLINLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFQQMLE451
SCN3ATLRAAGKTY-MIFFVLVIFLGSFYLVNLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFQQMLE450
SCN4ATLRAAGKTY-MIFFVVIIFLGSFYLINLIL>A<VVAMAYAEQNEATLAEDKEK-EEEFQQMLE473
SCN7AILYASGKVY-MIFFVVVSFLFSFYMASLFL>G<ILAMAYEEEKQRVGEISKKI-EPKFQQTGK420
SCN8ATLRAAGKTY-MIFFVLVIFVGSFYLVNLIL>A<VVAMAYEEQNQATLEEAEQK-EAEFKAMLE437
SCN9ATLRAAGKTY-MIFFVVVIFLGSFYLINLIL>A<VVAMAYEEQNQANIEEAKQK-ELEFQQMLD428
SCN10ATLRTSGKIY-MIFFVLVIFLGSFYLVNLIL>A<VVTMAYEEQNQATTDEIEAK-EKKFQEALE423
SCN11ATLRTTGLYS-VFFFIVVIFLGSFYLINLTL>A<VVTMAYEEQNKNVAAEIEAK-EKMFQEAQQ426
CACNA1ASNDASGNTWNWLYFIPLIIIGSFFMLNLVL>G<VLSGEFAKERERVENRRAFLKLRRQQQIER387
CACNA1BTNDAAGNTWNWLYFIPLIIIGSFFMLNLVL>G<VLSGEFAKERERVENRRAFLKLRRQQQIER383
CACNA1CVNDAVGRDWPWIYFVTLIIIGSFFVLNLVL>G<VLSGEFSKEREKAKARGDFQKLREKQQLEE432
CACNA1DVNDAIGWEWPWVYFVSLIILGSFFVLNLVL>G<VLSGEFSKEREKAKARGDFQKLREKQQLEE433
CACNA1ETNDALGATWNWLYFIPLIIIGSFFVLNLVL>G<VLSGEFAKERERVENRRAFMKLRRQQQIER378
CACNA1FMQDAMGYELPWVYFVSLVIFGSFFVLNLVL>G<VLSGEFSKEREKAKARGDFQKQREKQQMEE399
CACNA1GVMDAHSF-YNFIYFILLIIVGSFFMINLCL>V<VIATQFSETKQRESQLMREQRVRFLSNAST422
CACNA1HVMDAHSF-YNFIYFILLIIVGSFFMINLCL>V<VIATQFSETKQRESQLMREQRARHLSNDST446
CACNA1IVMDAHSF-YNFIYFILLIIVGSFFMINLCL>V<VIATQFSETKQREHRLMLEQRQRYLS-SST424
CACNA1SVNDAIGNEWPWIYFVTLILLGSFFILNLVL>G<VLSGEFTKEREKAKSRGTFQKLREKQQLDE361
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A410Vc.1229C>T Putative BenignSIFT:
Polyphen: