Paralogue Annotation for SCN5A residue 390

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 390
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 390

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM400VDravet syndrome C ?High9 21248271, 25795284
SCN1AM400KDravet syndromeHigh9 26096185

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.



SCN5AAFLALFRLMTQDCWERLYQQTLRSAGKIY->M<IFFMLVIFLGSFYLVNLILAVVAMAYEEQN420
SCN1AAFLSLFRLMTQDFWENLYQLTLRAAGKTY->M<IFFVLVIFLGSFYLINLILAVVAMAYEEQN430
SCN2AAFLSLFRLMTQDFWENLYQLTLRAAGKTY->M<IFFVLVIFLGSFYLINLILAVVAMAYEEQN432
SCN3AAFLSLFRLMTQDYWENLYQLTLRAAGKTY->M<IFFVLVIFLGSFYLVNLILAVVAMAYEEQN431
SCN4AAFLALFRLMTQDYWENLFQLTLRAAGKTY->M<IFFVVIIFLGSFYLINLILAVVAMAYAEQN454
SCN7AALFALFRLMAQDYPEVLYHQILYASGKVY->M<IFFVVVSFLFSFYMASLFLGILAMAYEEEK401
SCN8AAFLALFRLMTQDYWENLYQLTLRAAGKTY->M<IFFVLVIFVGSFYLVNLILAVVAMAYEEQN418
SCN9AAFLALFRLMTQDYWENLYQQTLRAAGKTY->M<IFFVVVIFLGSFYLINLILAVVAMAYEEQN409
SCN10AAFLSLFRLMTQDSWERLYQQTLRTSGKIY->M<IFFVLVIFLGSFYLVNLILAVVTMAYEEQN404
SCN11ASFLAMFRLMTQDSWEKLYQQTLRTTGLYS->V<FFFIVVIFLGSFYLINLTLAVVTMAYEEQN407
CACNA1AAVLTVFQCITMEGWTDLLYNSNDASGNTWN>W<LYFIPLIIIGSFFMLNLVLGVLSGEFAKER367
CACNA1BAILTVFQCITMEGWTDILYNTNDAAGNTWN>W<LYFIPLIIIGSFFMLNLVLGVLSGEFAKER363
CACNA1CAMLTVFQCITMEGWTDVLYWVNDAVGRDWP>W<IYFVTLIIIGSFFVLNLVLGVLSGEFSKER412
CACNA1DAMLTVFQCITMEGWTDVLYWVNDAIGWEWP>W<VYFVSLIILGSFFVLNLVLGVLSGEFSKER413
CACNA1EAVLTVFQCITMEGWTTVLYNTNDALGATWN>W<LYFIPLIIIGSFFVLNLVLGVLSGEFAKER358
CACNA1FAMLTVFQCVTMEGWTDVLYWMQDAMGYELP>W<VYFVSLVIFGSFFVLNLVLGVLSGEFSKER379
CACNA1GAWIAIFQVITLEGWVDIMYFVMDAHSF-YN>F<IYFILLIIVGSFFMINLCLVVIATQFSETK402
CACNA1HAWIAIFQVITLEGWVDIMYYVMDAHSF-YN>F<IYFILLIIVGSFFMINLCLVVIATQFSETK426
CACNA1IAWIVIFQVITLEGWVEIMYYVMDAHSF-YN>F<IYFILLIIVGSFFMINLCLVVIATQFSETK405
CACNA1SSMLTVYQCITMEGWTDVLYWVNDAIGNEWP>W<IYFVTLILLGSFFILNLVLGVLSGEFTKER341
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 390 for SCN5A.