Paralogue Annotation for SCN5A residue 1402

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1402
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1402

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1415IMyoclonic epilepsy of infancyHigh9 23773995, 23773995

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.



SCN5ANYTIVNNKSQCESLNLTGE--LYWTKVKVN>F<DNVGAGYLALLQVATFKGWMDIMYAAVDSR1432
SCN1ADIEDVNNHTDCLKLIERNET-ARWKNVKVN>F<DNVGFGYLSLLQVATFKGWMDIMYAAVDSR1445
SCN2ADVSVVNNYSECKALIESNQT-ARWKNVKVN>F<DNVGLGYLSLLQVATFKGWMDIMYAAVDSR1435
SCN3ADISDVNNLSDCQALGK--Q--ARWKNVKVN>F<DNVGAGYLALLQVATFKGWMDIMYAAVDSR1430
SCN4ADISEVNNKSECESLMHTGQ--VRWLNVKVN>Y<DNVGLGYLSLLQVATFKGWMDIMYAAVDSR1257
SCN7APSSEVMNKSRCESLLFNES--MLWENAKMN>F<DNVGNGFLSLLQVATFNGWITIMNSAIDSV1155
SCN8AEIEDVNNKTECEKLMEGNNTEIRWKNVKIN>F<DNVGAGYLALLQVATFKGWMDIMYAAVDSR1426
SCN9APASQVPNRSECFALMNVSQN-VRWKNLKVN>F<DNVGLGYLSLLQVATFKGWTIIMYAAVDSV1408
SCN10APLSIVNNKSDCKIQNSTGS--FFWVNVKVN>F<DNVAMGYLALLQVATFKGWMDIMYAAVDSR1380
SCN11ANYTIITNKSQCESGN------FSWINQKVN>F<DNVGNAYLALLQVATFKGWMDIIYAAVDST1270
CACNA1AGKYLLYEKNEVK----AR--DREWKKYEFH>Y<DNVLWALLTLFTVSTGEGWPQVLKHSVDAT1473
CACNA1BGQYLDYEKEEVE----AQ--PRQWKKYDFH>Y<DNVLWALLTLFTVSTGEGWPMVLKHSVDAT1379
CACNA1CGNYITYKDGEVDHP-IIQ--PRSWENSKFD>F<DNVLAAMMALFTVSTFEGWPELLYRSIDSH1128
CACNA1DGLFILYKDGDVDSP-VVR--ERIWQNSDFN>F<DNVLSAMMALFTVSTFEGWPALLYKAIDSN1134
CACNA1EGNYVDHEKNKME----VK--GREWKRHEFH>Y<DNIIWALLTLFTVSTGEGWPQVLQHSVDVT1385
CACNA1FGSFLVYPDGDVSRP-LVR--ERLWVNSDFN>F<DNVLSAMMALFTVSTFEGWPALLYKAIDAY1099
CACNA1G-TRNITNKSDCA----EA--SYRWVRHKYN>F<DNLGQALMSLFVLASKDGWVDIMYDGLDAV1499
CACNA1H-TRNISTKAQCR----AA--HYRWVRRKYN>F<DNLGQALMSLFVLSSKDGWVNIMYDGLDAV1517
CACNA1I-TRNITNRSDCM----AA--NYRWVHHKYN>F<DNLGQALMSLFVLASKDGWVNIMYNGLDAV1393
CACNA1SGYYYVYKDGDPMQI-ELR--HREWVHSDFH>F<DNVLSAMMSLFTVSTFEGWPQLLYKAIDSN1027
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1402 for SCN5A.