Paralogue Annotation for SCN5A residue 1818

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1818
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1818

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FL1486PNight blindness, congenital stationary, incompleteMedium9 19578023
SCN1AA1832PDravet 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.



SCN5AEDDFDMFYEIWEKFDPEATQFIEYSVLSDF>A<DALSEPLR--IAK--PNQI---SLINMDLP1841
SCN1AEDDFEMFYEVWEKFDPDATQFMEFEKLSQF>A<AALEPPLN--LPQ--PNKL---QLIAMDLP1855
SCN2AEDDFEMFYEVWEKFDPDATQFIEFAKLSDF>A<DALDPPLL--IAK--PNKV---QLIAMDLP1845
SCN3AEDDFEMFYEVWEKFDPDATQFIEFSKLSDF>A<AALDPPLL--IAK--PNKV---QLIAMDLP1840
SCN4AEDDFEMFYETWEKFDPDATQFIAYSRLSDF>V<DTLQEPLR--IAK--PNKI---KLITLDLP1667
SCN7AEDDFRKFFQVWKRFDPDRTQYIDSSKLSDF>A<AALDPPLF--MAK--PNKG---QLIALDLP1565
SCN8AEDDFETFYEIWEKFDPDATQFIEYCKLADF>A<DALEHPLR--VPK--PNTI---ELIAMDLP1835
SCN9AEDDFEMFYEVWEKFDPDATQFIEFSKLSDF>A<AALDPPLL--IAK--PNKV---QLIAMDLP1818
SCN10AEDDFDMFYETWEKFDPEATQFITFSALSDF>A<DTLSGPLR--IPK--PNRN---ILIQMDLP1791
SCN11AEDDFDIFYEVWEKFDPEATQFIKYSALSDF>A<DALPEPLR--VAK--PNKY---QFLVMDLP1673
CACNA1APHHLDEYVRVWAEYDPAACGRIHYKDMYSL>L<RVISPPLG--LGKKCPHRVACKRLLRMDLP1884
CACNA1BPHHLDEFIRVWAEYDPAACGRISYNDMFEM>L<KHMSPPLG--LGKKCPARVAYKRLVRMNMP1782
CACNA1CPHHLDEFKRIWAEYDPEAKGRIKHLDVVTL>L<RRIQPPLG--FGKLCPHRVACKRLVSMNMP1549
CACNA1DPHHLDEFKRIWSEYDPEAKGRIKHLDVVTL>L<RRIQPPLG--FGKLCPHRVACKRLVAMNMP1557
CACNA1EPHHLDEFVRVWAEYDRAACGRIHYTEMYEM>L<TLMSPPLG--LGKRCPSKVAYKRLVLMNMP1796
CACNA1FPHHLDEFKRIWSEYDPGAKGRIKHLDVVAL>L<RRIQPPLG--FGKLCPHRVACKRLVAMNMP1514
CACNA1GEAELEAELELEMKT-LSPQPHSPLGSPF-L>W<PGVEGPDS--PDSPKPGAL---------HP1911
CACNA1HDAELDAEIELEMAQGPGSARRVDADRP--->-<-----PLP--QESPG--AR--------DAP1912
CACNA1IDAEMDAELELEMAHGLGPGPRLPTGSPGAP>G<R---GPGGAGGGGDT--EG---GLCRRCYS1795
CACNA1SPHHLDEFKAIWAEYDPEAKGRIKHLDVVTL>L<RRIQPPLG--FGKFCPHRVACKRLVGMNMP1454
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1818 for SCN5A.