Paralogue Annotation for SCN5A residue 1401

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1401
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1401

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AN1414YMyoclonic epilepsy of infancyHigh9 17561957
SCN1AN1414DGeneralized epilepsy with febrile seizures plus ?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.



SCN5ALNYTIVNNKSQCESLNLTGE--LYWTKVKV>N<FDNVGAGYLALLQVATFKGWMDIMYAAVDS1431
SCN1AFDIEDVNNHTDCLKLIERNET-ARWKNVKV>N<FDNVGFGYLSLLQVATFKGWMDIMYAAVDS1444
SCN2AFDVSVVNNYSECKALIESNQT-ARWKNVKV>N<FDNVGLGYLSLLQVATFKGWMDIMYAAVDS1434
SCN3AFDISDVNNLSDCQALGK--Q--ARWKNVKV>N<FDNVGAGYLALLQVATFKGWMDIMYAAVDS1429
SCN4AFDISEVNNKSECESLMHTGQ--VRWLNVKV>N<YDNVGLGYLSLLQVATFKGWMDIMYAAVDS1256
SCN7AFPSSEVMNKSRCESLLFNES--MLWENAKM>N<FDNVGNGFLSLLQVATFNGWITIMNSAIDS1154
SCN8AFEIEDVNNKTECEKLMEGNNTEIRWKNVKI>N<FDNVGAGYLALLQVATFKGWMDIMYAAVDS1425
SCN9AFPASQVPNRSECFALMNVSQN-VRWKNLKV>N<FDNVGLGYLSLLQVATFKGWTIIMYAAVDS1407
SCN10AVPLSIVNNKSDCKIQNSTGS--FFWVNVKV>N<FDNVAMGYLALLQVATFKGWMDIMYAAVDS1379
SCN11A-NYTIITNKSQCESGN------FSWINQKV>N<FDNVGNAYLALLQVATFKGWMDIIYAAVDS1269
CACNA1ARGKYLLYEKNEVK----AR--DREWKKYEF>H<YDNVLWALLTLFTVSTGEGWPQVLKHSVDA1472
CACNA1BRGQYLDYEKEEVE----AQ--PRQWKKYDF>H<YDNVLWALLTLFTVSTGEGWPMVLKHSVDA1378
CACNA1CKGNYITYKDGEVDHP-IIQ--PRSWENSKF>D<FDNVLAAMMALFTVSTFEGWPELLYRSIDS1127
CACNA1DRGLFILYKDGDVDSP-VVR--ERIWQNSDF>N<FDNVLSAMMALFTVSTFEGWPALLYKAIDS1133
CACNA1EIGNYVDHEKNKME----VK--GREWKRHEF>H<YDNIIWALLTLFTVSTGEGWPQVLQHSVDV1384
CACNA1FKGSFLVYPDGDVSRP-LVR--ERLWVNSDF>N<FDNVLSAMMALFTVSTFEGWPALLYKAIDA1098
CACNA1G--TRNITNKSDCA----EA--SYRWVRHKY>N<FDNLGQALMSLFVLASKDGWVDIMYDGLDA1498
CACNA1H--TRNISTKAQCR----AA--HYRWVRRKY>N<FDNLGQALMSLFVLSSKDGWVNIMYDGLDA1516
CACNA1I--TRNITNRSDCM----AA--NYRWVHHKY>N<FDNLGQALMSLFVLASKDGWVNIMYNGLDA1392
CACNA1SRGYYYVYKDGDPMQI-ELR--HREWVHSDF>H<FDNVLSAMMSLFTVSTFEGWPQLLYKAIDS1026
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1401 for SCN5A.