Paralogue Annotation for SCN5A residue 394

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 394
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 394

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN11AI381TPainful peripheral neuropathyMedium9 24776970, 24776970

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.



SCN5ALFRLMTQDCWERLYQQTLRSAGKIY-MIFF>M<LVIFLGSFYLVNLILAVVAMAYEEQNQATI424
SCN1ALFRLMTQDFWENLYQLTLRAAGKTY-MIFF>V<LVIFLGSFYLINLILAVVAMAYEEQNQATL434
SCN2ALFRLMTQDFWENLYQLTLRAAGKTY-MIFF>V<LVIFLGSFYLINLILAVVAMAYEEQNQATL436
SCN3ALFRLMTQDYWENLYQLTLRAAGKTY-MIFF>V<LVIFLGSFYLVNLILAVVAMAYEEQNQATL435
SCN4ALFRLMTQDYWENLFQLTLRAAGKTY-MIFF>V<VIIFLGSFYLINLILAVVAMAYAEQNEATL458
SCN7ALFRLMAQDYPEVLYHQILYASGKVY-MIFF>V<VVSFLFSFYMASLFLGILAMAYEEEKQRVG405
SCN8ALFRLMTQDYWENLYQLTLRAAGKTY-MIFF>V<LVIFVGSFYLVNLILAVVAMAYEEQNQATL422
SCN9ALFRLMTQDYWENLYQQTLRAAGKTY-MIFF>V<VVIFLGSFYLINLILAVVAMAYEEQNQANI413
SCN10ALFRLMTQDSWERLYQQTLRTSGKIY-MIFF>V<LVIFLGSFYLVNLILAVVTMAYEEQNQATT408
SCN11AMFRLMTQDSWEKLYQQTLRTTGLYS-VFFF>I<VVIFLGSFYLINLTLAVVTMAYEEQNKNVA411
CACNA1AVFQCITMEGWTDLLYNSNDASGNTWNWLYF>I<PLIIIGSFFMLNLVLGVLSGEFAKERERVE371
CACNA1BVFQCITMEGWTDILYNTNDAAGNTWNWLYF>I<PLIIIGSFFMLNLVLGVLSGEFAKERERVE367
CACNA1CVFQCITMEGWTDVLYWVNDAVGRDWPWIYF>V<TLIIIGSFFVLNLVLGVLSGEFSKEREKAK416
CACNA1DVFQCITMEGWTDVLYWVNDAIGWEWPWVYF>V<SLIILGSFFVLNLVLGVLSGEFSKEREKAK417
CACNA1EVFQCITMEGWTTVLYNTNDALGATWNWLYF>I<PLIIIGSFFVLNLVLGVLSGEFAKERERVE362
CACNA1FVFQCVTMEGWTDVLYWMQDAMGYELPWVYF>V<SLVIFGSFFVLNLVLGVLSGEFSKEREKAK383
CACNA1GIFQVITLEGWVDIMYFVMDAHSF-YNFIYF>I<LLIIVGSFFMINLCLVVIATQFSETKQRES406
CACNA1HIFQVITLEGWVDIMYYVMDAHSF-YNFIYF>I<LLIIVGSFFMINLCLVVIATQFSETKQRES430
CACNA1IIFQVITLEGWVEIMYYVMDAHSF-YNFIYF>I<LLIIVGSFFMINLCLVVIATQFSETKQREH409
CACNA1SVYQCITMEGWTDVLYWVNDAIGNEWPWIYF>V<TLILLGSFFILNLVLGVLSGEFTKEREKAK345
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 394 for SCN5A.