Paralogue Annotation for SCN5A residue 1821

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1821
Reference Amino Acid: L - Leucine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1821

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AL1835FDravet syndromeHigh9 18930999

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.



SCN5AFDMFYEIWEKFDPEATQFIEYSVLSDFADA>L<SEPLR--IAK--PNQI---SLINMDLPMVS1844
SCN1AFEMFYEVWEKFDPDATQFMEFEKLSQFAAA>L<EPPLN--LPQ--PNKL---QLIAMDLPMVS1858
SCN2AFEMFYEVWEKFDPDATQFIEFAKLSDFADA>L<DPPLL--IAK--PNKV---QLIAMDLPMVS1848
SCN3AFEMFYEVWEKFDPDATQFIEFSKLSDFAAA>L<DPPLL--IAK--PNKV---QLIAMDLPMVS1843
SCN4AFEMFYETWEKFDPDATQFIAYSRLSDFVDT>L<QEPLR--IAK--PNKI---KLITLDLPMVP1670
SCN7AFRKFFQVWKRFDPDRTQYIDSSKLSDFAAA>L<DPPLF--MAK--PNKG---QLIALDLPMAV1568
SCN8AFETFYEIWEKFDPDATQFIEYCKLADFADA>L<EHPLR--VPK--PNTI---ELIAMDLPMVS1838
SCN9AFEMFYEVWEKFDPDATQFIEFSKLSDFAAA>L<DPPLL--IAK--PNKV---QLIAMDLPMVS1821
SCN10AFDMFYETWEKFDPEATQFITFSALSDFADT>L<SGPLR--IPK--PNRN---ILIQMDLPLVP1794
SCN11AFDIFYEVWEKFDPEATQFIKYSALSDFADA>L<PEPLR--VAK--PNKY---QFLVMDLPMVS1676
CACNA1ALDEYVRVWAEYDPAACGRIHYKDMYSLLRV>I<SPPLG--LGKKCPHRVACKRLLRMDLPVAD1887
CACNA1BLDEFIRVWAEYDPAACGRISYNDMFEMLKH>M<SPPLG--LGKKCPARVAYKRLVRMNMPISN1785
CACNA1CLDEFKRIWAEYDPEAKGRIKHLDVVTLLRR>I<QPPLG--FGKLCPHRVACKRLVSMNMPLNS1552
CACNA1DLDEFKRIWSEYDPEAKGRIKHLDVVTLLRR>I<QPPLG--FGKLCPHRVACKRLVAMNMPLNS1560
CACNA1ELDEFVRVWAEYDRAACGRIHYTEMYEMLTL>M<SPPLG--LGKRCPSKVAYKRLVLMNMPVAE1799
CACNA1FLDEFKRIWSEYDPGAKGRIKHLDVVALLRR>I<QPPLG--FGKLCPHRVACKRLVAMNMPLNS1517
CACNA1GLEAELELEMKT-LSPQPHSPLGSPF-LWPG>V<EGPDS--PDSPKPGAL---------HPAAH1914
CACNA1HLDAEIELEMAQGPGSARRVDADRP------>-<--PLP--QESPG--AR--------DAPN--1913
CACNA1IMDAELELEMAHGLGPGPRLPTGSPGAPGR->-<-GPGGAGGGGDT--EG---GLCRRCYSPAQ1798
CACNA1SLDEFKAIWAEYDPEAKGRIKHLDVVTLLRR>I<QPPLG--FGKFCPHRVACKRLVGMNMPLNS1457
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1821 for SCN5A.