Paralogue Annotation for SCN5A residue 414

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 414
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 414

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1CG406RTimothy syndromeMedium9 15454078, 19074970, 21878566, 23313911, 23690510, 15863612, 23631430, 23678275, 21910241, 23580742
CACNA1DG407RAutismMedium9 22542183, 25620733

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.



SCN5AAGKIY-MIFFMLVIFLGSFYLVNLILAVVA>M<AYEEQNQATIAETEEK-EKRFQEAMEMLKK443
SCN1AAGKTY-MIFFVLVIFLGSFYLINLILAVVA>M<AYEEQNQATLEEAEQK-EAEFQQMIEQLKK453
SCN2AAGKTY-MIFFVLVIFLGSFYLINLILAVVA>M<AYEEQNQATLEEAEQK-EAEFQQMLEQLKK455
SCN3AAGKTY-MIFFVLVIFLGSFYLVNLILAVVA>M<AYEEQNQATLEEAEQK-EAEFQQMLEQLKK454
SCN4AAGKTY-MIFFVVIIFLGSFYLINLILAVVA>M<AYAEQNEATLAEDKEK-EEEFQQMLEKFKK477
SCN7ASGKVY-MIFFVVVSFLFSFYMASLFLGILA>M<AYEEEKQRVGEISKKI-EPKFQQTGKELQE424
SCN8AAGKTY-MIFFVLVIFVGSFYLVNLILAVVA>M<AYEEQNQATLEEAEQK-EAEFKAMLEQLKK441
SCN9AAGKTY-MIFFVVVIFLGSFYLINLILAVVA>M<AYEEQNQANIEEAKQK-ELEFQQMLDRLKK432
SCN10ASGKIY-MIFFVLVIFLGSFYLVNLILAVVT>M<AYEEQNQATTDEIEAK-EKKFQEALEMLRK427
SCN11ATGLYS-VFFFIVVIFLGSFYLINLTLAVVT>M<AYEEQNKNVAAEIEAK-EKMFQEAQQLLKE430
CACNA1ASGNTWNWLYFIPLIIIGSFFMLNLVLGVLS>G<EFAKERERVENRRAFLKLRRQQQIERELNG391
CACNA1BAGNTWNWLYFIPLIIIGSFFMLNLVLGVLS>G<EFAKERERVENRRAFLKLRRQQQIERELNG387
CACNA1CVGRDWPWIYFVTLIIIGSFFVLNLVLGVLS>G<EFSKEREKAKARGDFQKLREKQQLEEDLKG436
CACNA1DIGWEWPWVYFVSLIILGSFFVLNLVLGVLS>G<EFSKEREKAKARGDFQKLREKQQLEEDLKG437
CACNA1ELGATWNWLYFIPLIIIGSFFVLNLVLGVLS>G<EFAKERERVENRRAFMKLRRQQQIERELNG382
CACNA1FMGYELPWVYFVSLVIFGSFFVLNLVLGVLS>G<EFSKEREKAKARGDFQKQREKQQMEEDLRG403
CACNA1GHSF-YNFIYFILLIIVGSFFMINLCLVVIA>T<QFSETKQRESQLMREQRVRFLSNASTLASF426
CACNA1HHSF-YNFIYFILLIIVGSFFMINLCLVVIA>T<QFSETKQRESQLMREQRARHLSNDSTLASF450
CACNA1IHSF-YNFIYFILLIIVGSFFMINLCLVVIA>T<QFSETKQREHRLMLEQRQRYLS-SSTVASY428
CACNA1SIGNEWPWIYFVTLILLGSFFILNLVLGVLS>G<EFTKEREKAKSRGTFQKLREKQQLDEDLRG365
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 414 for SCN5A.