Paralogue Annotation for SCN5A residue 402

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 402
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 402

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF412IGeneralized epilepsy with febrile seizures plusHigh9 20682179
SCN10AF386CBrugada syndromeHigh9 24998131

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.



SCN5ACWERLYQQTLRSAGKIY-MIFFMLVIFLGS>F<YLVNLILAVVAMAYEEQNQATIAETEEK-E431
SCN1AFWENLYQLTLRAAGKTY-MIFFVLVIFLGS>F<YLINLILAVVAMAYEEQNQATLEEAEQK-E441
SCN2AFWENLYQLTLRAAGKTY-MIFFVLVIFLGS>F<YLINLILAVVAMAYEEQNQATLEEAEQK-E443
SCN3AYWENLYQLTLRAAGKTY-MIFFVLVIFLGS>F<YLVNLILAVVAMAYEEQNQATLEEAEQK-E442
SCN4AYWENLFQLTLRAAGKTY-MIFFVVIIFLGS>F<YLINLILAVVAMAYAEQNEATLAEDKEK-E465
SCN7AYPEVLYHQILYASGKVY-MIFFVVVSFLFS>F<YMASLFLGILAMAYEEEKQRVGEISKKI-E412
SCN8AYWENLYQLTLRAAGKTY-MIFFVLVIFVGS>F<YLVNLILAVVAMAYEEQNQATLEEAEQK-E429
SCN9AYWENLYQQTLRAAGKTY-MIFFVVVIFLGS>F<YLINLILAVVAMAYEEQNQANIEEAKQK-E420
SCN10ASWERLYQQTLRTSGKIY-MIFFVLVIFLGS>F<YLVNLILAVVTMAYEEQNQATTDEIEAK-E415
SCN11ASWEKLYQQTLRTTGLYS-VFFFIVVIFLGS>F<YLINLTLAVVTMAYEEQNKNVAAEIEAK-E418
CACNA1AGWTDLLYNSNDASGNTWNWLYFIPLIIIGS>F<FMLNLVLGVLSGEFAKERERVENRRAFLKL379
CACNA1BGWTDILYNTNDAAGNTWNWLYFIPLIIIGS>F<FMLNLVLGVLSGEFAKERERVENRRAFLKL375
CACNA1CGWTDVLYWVNDAVGRDWPWIYFVTLIIIGS>F<FVLNLVLGVLSGEFSKEREKAKARGDFQKL424
CACNA1DGWTDVLYWVNDAIGWEWPWVYFVSLIILGS>F<FVLNLVLGVLSGEFSKEREKAKARGDFQKL425
CACNA1EGWTTVLYNTNDALGATWNWLYFIPLIIIGS>F<FVLNLVLGVLSGEFAKERERVENRRAFMKL370
CACNA1FGWTDVLYWMQDAMGYELPWVYFVSLVIFGS>F<FVLNLVLGVLSGEFSKEREKAKARGDFQKQ391
CACNA1GGWVDIMYFVMDAHSF-YNFIYFILLIIVGS>F<FMINLCLVVIATQFSETKQRESQLMREQRV414
CACNA1HGWVDIMYYVMDAHSF-YNFIYFILLIIVGS>F<FMINLCLVVIATQFSETKQRESQLMREQRA438
CACNA1IGWVEIMYYVMDAHSF-YNFIYFILLIIVGS>F<FMINLCLVVIATQFSETKQREHRLMLEQRQ417
CACNA1SGWTDVLYWVNDAIGNEWPWIYFVTLILLGS>F<FILNLVLGVLSGEFTKEREKAKSRGTFQKL353
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F402Lc.1206C>G Putative BenignSIFT:
Polyphen: