Paralogue Annotation for SCN5A residue 1404

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1404
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1404

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1417SDravet syndrome C ?High9 21248271

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.



SCN5ATIVNNKSQCESLNLTGE--LYWTKVKVNFD>N<VGAGYLALLQVATFKGWMDIMYAAVDSRGY1434
SCN1AEDVNNHTDCLKLIERNET-ARWKNVKVNFD>N<VGFGYLSLLQVATFKGWMDIMYAAVDSRNV1447
SCN2ASVVNNYSECKALIESNQT-ARWKNVKVNFD>N<VGLGYLSLLQVATFKGWMDIMYAAVDSRNV1437
SCN3ASDVNNLSDCQALGK--Q--ARWKNVKVNFD>N<VGAGYLALLQVATFKGWMDIMYAAVDSRDV1432
SCN4ASEVNNKSECESLMHTGQ--VRWLNVKVNYD>N<VGLGYLSLLQVATFKGWMDIMYAAVDSREK1259
SCN7ASEVMNKSRCESLLFNES--MLWENAKMNFD>N<VGNGFLSLLQVATFNGWITIMNSAIDSVAV1157
SCN8AEDVNNKTECEKLMEGNNTEIRWKNVKINFD>N<VGAGYLALLQVATFKGWMDIMYAAVDSRKP1428
SCN9ASQVPNRSECFALMNVSQN-VRWKNLKVNFD>N<VGLGYLSLLQVATFKGWTIIMYAAVDSVNV1410
SCN10ASIVNNKSDCKIQNSTGS--FFWVNVKVNFD>N<VAMGYLALLQVATFKGWMDIMYAAVDSREV1382
SCN11ATIITNKSQCESGN------FSWINQKVNFD>N<VGNAYLALLQVATFKGWMDIIYAAVDSTEK1272
CACNA1AYLLYEKNEVK----AR--DREWKKYEFHYD>N<VLWALLTLFTVSTGEGWPQVLKHSVDATFE1475
CACNA1BYLDYEKEEVE----AQ--PRQWKKYDFHYD>N<VLWALLTLFTVSTGEGWPMVLKHSVDATYE1381
CACNA1CYITYKDGEVDHP-IIQ--PRSWENSKFDFD>N<VLAAMMALFTVSTFEGWPELLYRSIDSHTE1130
CACNA1DFILYKDGDVDSP-VVR--ERIWQNSDFNFD>N<VLSAMMALFTVSTFEGWPALLYKAIDSNGE1136
CACNA1EYVDHEKNKME----VK--GREWKRHEFHYD>N<IIWALLTLFTVSTGEGWPQVLQHSVDVTEE1387
CACNA1FFLVYPDGDVSRP-LVR--ERLWVNSDFNFD>N<VLSAMMALFTVSTFEGWPALLYKAIDAYAE1101
CACNA1GRNITNKSDCA----EA--SYRWVRHKYNFD>N<LGQALMSLFVLASKDGWVDIMYDGLDAVGV1501
CACNA1HRNISTKAQCR----AA--HYRWVRRKYNFD>N<LGQALMSLFVLSSKDGWVNIMYDGLDAVGV1519
CACNA1IRNITNRSDCM----AA--NYRWVHHKYNFD>N<LGQALMSLFVLASKDGWVNIMYNGLDAVAV1395
CACNA1SYYVYKDGDPMQI-ELR--HREWVHSDFHFD>N<VLSAMMSLFTVSTFEGWPQLLYKAIDSNAE1029
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1404 for SCN5A.