Paralogue Annotation for SCN5A residue 393

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 393
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 393

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF403LMyoclonic epilepsy of infancyHigh9 17347258
SCN1AF403VDravet syndrome C ?High9 21248271

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.



SCN5AALFRLMTQDCWERLYQQTLRSAGKIY-MIF>F<MLVIFLGSFYLVNLILAVVAMAYEEQNQAT423
SCN1ASLFRLMTQDFWENLYQLTLRAAGKTY-MIF>F<VLVIFLGSFYLINLILAVVAMAYEEQNQAT433
SCN2ASLFRLMTQDFWENLYQLTLRAAGKTY-MIF>F<VLVIFLGSFYLINLILAVVAMAYEEQNQAT435
SCN3ASLFRLMTQDYWENLYQLTLRAAGKTY-MIF>F<VLVIFLGSFYLVNLILAVVAMAYEEQNQAT434
SCN4AALFRLMTQDYWENLFQLTLRAAGKTY-MIF>F<VVIIFLGSFYLINLILAVVAMAYAEQNEAT457
SCN7AALFRLMAQDYPEVLYHQILYASGKVY-MIF>F<VVVSFLFSFYMASLFLGILAMAYEEEKQRV404
SCN8AALFRLMTQDYWENLYQLTLRAAGKTY-MIF>F<VLVIFVGSFYLVNLILAVVAMAYEEQNQAT421
SCN9AALFRLMTQDYWENLYQQTLRAAGKTY-MIF>F<VVVIFLGSFYLINLILAVVAMAYEEQNQAN412
SCN10ASLFRLMTQDSWERLYQQTLRTSGKIY-MIF>F<VLVIFLGSFYLVNLILAVVTMAYEEQNQAT407
SCN11AAMFRLMTQDSWEKLYQQTLRTTGLYS-VFF>F<IVVIFLGSFYLINLTLAVVTMAYEEQNKNV410
CACNA1ATVFQCITMEGWTDLLYNSNDASGNTWNWLY>F<IPLIIIGSFFMLNLVLGVLSGEFAKERERV370
CACNA1BTVFQCITMEGWTDILYNTNDAAGNTWNWLY>F<IPLIIIGSFFMLNLVLGVLSGEFAKERERV366
CACNA1CTVFQCITMEGWTDVLYWVNDAVGRDWPWIY>F<VTLIIIGSFFVLNLVLGVLSGEFSKEREKA415
CACNA1DTVFQCITMEGWTDVLYWVNDAIGWEWPWVY>F<VSLIILGSFFVLNLVLGVLSGEFSKEREKA416
CACNA1ETVFQCITMEGWTTVLYNTNDALGATWNWLY>F<IPLIIIGSFFVLNLVLGVLSGEFAKERERV361
CACNA1FTVFQCVTMEGWTDVLYWMQDAMGYELPWVY>F<VSLVIFGSFFVLNLVLGVLSGEFSKEREKA382
CACNA1GAIFQVITLEGWVDIMYFVMDAHSF-YNFIY>F<ILLIIVGSFFMINLCLVVIATQFSETKQRE405
CACNA1HAIFQVITLEGWVDIMYYVMDAHSF-YNFIY>F<ILLIIVGSFFMINLCLVVIATQFSETKQRE429
CACNA1IVIFQVITLEGWVEIMYYVMDAHSF-YNFIY>F<ILLIIVGSFFMINLCLVVIATQFSETKQRE408
CACNA1STVYQCITMEGWTDVLYWVNDAIGNEWPWIY>F<VTLILLGSFFILNLVLGVLSGEFTKEREKA344
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 393 for SCN5A.