Paralogue Annotation for SCN5A residue 1817

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1817
Reference Amino Acid: F - Phenylalanine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1817

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1831SMyoclonic epilepsy of infancyHigh9 12566275, 24679980

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.



SCN5ASEDDFDMFYEIWEKFDPEATQFIEYSVLSD>F<ADALSEPLR--IAK--PNQI---SLINMDL1840
SCN1ASEDDFEMFYEVWEKFDPDATQFMEFEKLSQ>F<AAALEPPLN--LPQ--PNKL---QLIAMDL1854
SCN2ASEDDFEMFYEVWEKFDPDATQFIEFAKLSD>F<ADALDPPLL--IAK--PNKV---QLIAMDL1844
SCN3ASEDDFEMFYEVWEKFDPDATQFIEFSKLSD>F<AAALDPPLL--IAK--PNKV---QLIAMDL1839
SCN4AGEDDFEMFYETWEKFDPDATQFIAYSRLSD>F<VDTLQEPLR--IAK--PNKI---KLITLDL1666
SCN7ASEDDFRKFFQVWKRFDPDRTQYIDSSKLSD>F<AAALDPPLF--MAK--PNKG---QLIALDL1564
SCN8ASEDDFETFYEIWEKFDPDATQFIEYCKLAD>F<ADALEHPLR--VPK--PNTI---ELIAMDL1834
SCN9ASEDDFEMFYEVWEKFDPDATQFIEFSKLSD>F<AAALDPPLL--IAK--PNKV---QLIAMDL1817
SCN10ASEDDFDMFYETWEKFDPEATQFITFSALSD>F<ADTLSGPLR--IPK--PNRN---ILIQMDL1790
SCN11AGEDDFDIFYEVWEKFDPEATQFIKYSALSD>F<ADALPEPLR--VAK--PNKY---QFLVMDL1672
CACNA1AGPHHLDEYVRVWAEYDPAACGRIHYKDMYS>L<LRVISPPLG--LGKKCPHRVACKRLLRMDL1883
CACNA1BGPHHLDEFIRVWAEYDPAACGRISYNDMFE>M<LKHMSPPLG--LGKKCPARVAYKRLVRMNM1781
CACNA1CGPHHLDEFKRIWAEYDPEAKGRIKHLDVVT>L<LRRIQPPLG--FGKLCPHRVACKRLVSMNM1548
CACNA1DGPHHLDEFKRIWSEYDPEAKGRIKHLDVVT>L<LRRIQPPLG--FGKLCPHRVACKRLVAMNM1556
CACNA1EGPHHLDEFVRVWAEYDRAACGRIHYTEMYE>M<LTLMSPPLG--LGKRCPSKVAYKRLVLMNM1795
CACNA1FGPHHLDEFKRIWSEYDPGAKGRIKHLDVVA>L<LRRIQPPLG--FGKLCPHRVACKRLVAMNM1513
CACNA1G-EAELEAELELEMKT-LSPQPHSPLGSPF->L<WPGVEGPDS--PDSPKPGAL---------H1910
CACNA1H-DAELDAEIELEMAQGPGSARRVDADRP-->-<------PLP--QESPG--AR--------DA1911
CACNA1I-DAEMDAELELEMAHGLGPGPRLPTGSPGA>P<GR---GPGGAGGGGDT--EG---GLCRRCY1794
CACNA1SGPHHLDEFKAIWAEYDPEAKGRIKHLDVVT>L<LRRIQPPLG--FGKFCPHRVACKRLVGMNM1453
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1817 for SCN5A.