Paralogue Annotation for SCN5A residue 418

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 418
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 418

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AE430QNeonatal-infantile seizures ?High9 17386050
SCN4AE452KMyotonia, non-dystrophicHigh9 18337100
SCN2AE430GEpileptic encephalopathy, early onsetHigh9 24659627

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.



SCN5AY-MIFFMLVIFLGSFYLVNLILAVVAMAYE>E<QNQATIAETEEK-EKRFQEAMEMLKK----443
SCN1AY-MIFFVLVIFLGSFYLINLILAVVAMAYE>E<QNQATLEEAEQK-EAEFQQMIEQLKK----453
SCN2AY-MIFFVLVIFLGSFYLINLILAVVAMAYE>E<QNQATLEEAEQK-EAEFQQMLEQLKK----455
SCN3AY-MIFFVLVIFLGSFYLVNLILAVVAMAYE>E<QNQATLEEAEQK-EAEFQQMLEQLKK----454
SCN4AY-MIFFVVIIFLGSFYLINLILAVVAMAYA>E<QNEATLAEDKEK-EEEFQQMLEKFKK----477
SCN7AY-MIFFVVVSFLFSFYMASLFLGILAMAYE>E<EKQRVGEISKKI-EPKFQQTGKELQE----424
SCN8AY-MIFFVLVIFVGSFYLVNLILAVVAMAYE>E<QNQATLEEAEQK-EAEFKAMLEQLKK----441
SCN9AY-MIFFVVVIFLGSFYLINLILAVVAMAYE>E<QNQANIEEAKQK-ELEFQQMLDRLKK----432
SCN10AY-MIFFVLVIFLGSFYLVNLILAVVTMAYE>E<QNQATTDEIEAK-EKKFQEALEMLRK----427
SCN11AS-VFFFIVVIFLGSFYLINLTLAVVTMAYE>E<QNKNVAAEIEAK-EKMFQEAQQLLKE----430
CACNA1AWNWLYFIPLIIIGSFFMLNLVLGVLSGEFA>K<ERERVENRRAFLKLRRQQQIERELNG----391
CACNA1BWNWLYFIPLIIIGSFFMLNLVLGVLSGEFA>K<ERERVENRRAFLKLRRQQQIERELNG----387
CACNA1CWPWIYFVTLIIIGSFFVLNLVLGVLSGEFS>K<EREKAKARGDFQKLREKQQLEEDLKG----436
CACNA1DWPWVYFVSLIILGSFFVLNLVLGVLSGEFS>K<EREKAKARGDFQKLREKQQLEEDLKG----437
CACNA1EWNWLYFIPLIIIGSFFVLNLVLGVLSGEFA>K<ERERVENRRAFMKLRRQQQIERELNG----382
CACNA1FLPWVYFVSLVIFGSFFVLNLVLGVLSGEFS>K<EREKAKARGDFQKQREKQQMEEDLRG----403
CACNA1GYNFIYFILLIIVGSFFMINLCLVVIATQFS>E<TKQRESQLMREQRVRFLSNASTLASFSEPG430
CACNA1HYNFIYFILLIIVGSFFMINLCLVVIATQFS>E<TKQRESQLMREQRARHLSNDSTLASFSEPG454
CACNA1IYNFIYFILLIIVGSFFMINLCLVVIATQFS>E<TKQREHRLMLEQRQRYLS-SSTVASYAEPG432
CACNA1SWPWIYFVTLILLGSFFILNLVLGVLSGEFT>K<EREKAKSRGTFQKLREKQQLDEDLRG----365
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 418 for SCN5A.