Paralogue Annotation for SCN5A residue 368

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 368
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 368

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL378QDravet syndromeHigh9 18930999

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.



SCN5AGYRCLKAGENPDHGYTSFDSFAWAFLALFR>L<MTQDCWERLYQQTLRSAGKIY-MIFFMLVI397
SCN1AGYMCVKAGRNPNYGYTSFDTFSWAFLSLFR>L<MTQDFWENLYQLTLRAAGKTY-MIFFVLVI407
SCN2AGYICVKAGRNPNYGYTSFDTFSWAFLSLFR>L<MTQDFWENLYQLTLRAAGKTY-MIFFVLVI409
SCN3AGYICVKAGRNPNYGYTSFDTFSWAFLSLFR>L<MTQDYWENLYQLTLRAAGKTY-MIFFVLVI408
SCN4AGYECIKTGRNPNYGYTSYDTFSWAFLALFR>L<MTQDYWENLFQLTLRAAGKTY-MIFFVVII431
SCN7AGYVCVKAGINPDQGFTNFDSFGWALFALFR>L<MAQDYPEVLYHQILYASGKVY-MIFFVVVS378
SCN8AGYQCMKAGRNPNYGYTSFDTFSWAFLALFR>L<MTQDYWENLYQLTLRAAGKTY-MIFFVLVI395
SCN9AGYTCVKIGRNPDYGYTSFDTFSWAFLALFR>L<MTQDYWENLYQQTLRAAGKTY-MIFFVVVI386
SCN10AGYICLKTSDNPDFNYTSFDSFAWAFLSLFR>L<MTQDSWERLYQQTLRTSGKIY-MIFFVLVI381
SCN11AQYECKHTKINPDYNYTNFDNFGWSFLAMFR>L<MTQDSWEKLYQQTLRTTGLYS-VFFFIVVI384
CACNA1AGTKCQPYWEGPNNGITQFDNILFAVLTVFQ>C<ITMEGWTDLLYNSNDASGNTWNWLYFIPLI344
CACNA1BDTECREYWPGPNFGITNFDNILFAILTVFQ>C<ITMEGWTDILYNTNDAAGNTWNWLYFIPLI340
CACNA1CGTVCKPGWDGPKHGITNFDNFAFAMLTVFQ>C<ITMEGWTDVLYWVNDAVGRDWPWIYFVTLI389
CACNA1DGTECRSGWVGPNGGITNFDNFAFAMLTVFQ>C<ITMEGWTDVLYWVNDAIGWEWPWVYFVSLI390
CACNA1EGYEC-KDWIGPNDGITQFDNILFAVLTVFQ>C<ITMEGWTTVLYNTNDALGATWNWLYFIPLI335
CACNA1FQTECRGRWPGPNGGITNFDNFFFAMLTVFQ>C<VTMEGWTDVLYWMQDAMGYELPWVYFVSLV356
CACNA1GYTNCSAGEHNPFKGAINFDNIGYAWIAIFQ>V<ITLEGWVDIMYFVMDAHSF-YNFIYFILLI379
CACNA1HYNVCRSGDSNPHNGAINFDNIGYAWIAIFQ>V<ITLEGWVDIMYYVMDAHSF-YNFIYFILLI403
CACNA1IYNVCRTGSANPHKGAINFDNIGYAWIVIFQ>V<ITLEGWVEIMYYVMDAHSF-YNFIYFILLI382
CACNA1SGSECRGGWPGPNHGITHFDNFGFSMLTVYQ>C<ITMEGWTDVLYWVNDAIGNEWPWIYFVTLI318
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 368 for SCN5A.