Paralogue Annotation for SCN5A residue 821

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 821
Reference Amino Acid: S - Serine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 821

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AS872YDravet syndromeHigh9 24168886

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.



SCN5ALGLSRMS-----NLSVLRSFRLLRVFKLAK>S<WPTLNTLIKIIGNSVGALGNLTLVLAIIVF851
SCN1ALGLANVE-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF902
SCN2ALGLANVE-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF893
SCN3ALGLSNVE-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF894
SCN4ALGLANVQ-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF712
SCN7ALCLANVA-----GMALLRLFRMLRIFKLGK>Y<WPTFQILMWSLSNSWVALKDLVLLLFTFIF639
SCN8ALSLADVE-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF887
SCN9ALFLADVE-----GLSVLRSFRLLRVFKLAK>S<WPTLNMLIKIIGNSVGALGNLTLVLAIIVF867
SCN10ALGVAKKG-----SLSVLRSFRLLRVFKLAK>S<WPTLNTLIKIIGNSVGALGNLTIILAIIVF799
SCN11AVMNCVLQKR---SWPFLRSFRVLRVFKLAK>S<WPTLNTLIKIIGNSVGALGSLTVVLVIVIF713
CACNA1AVIWAVIKPGTSFGISVLRALRLLRIFKVTK>Y<WASLRNLVVSLLNSMKSIISLLFLLFLFIV626
CACNA1BVVWAAIKPGSSFGISVLRALRLLRIFKVTK>Y<WSSLRNLVVSLLNSMKSIISLLFLLFLFIV622
CACNA1CTILVETKIMSPLGISVLRCVRLLRIFKITR>Y<WNSLSNLVASLLNSVRSIASLLLLLFLFII663
CACNA1DTILVELEIMSPLGISVFRCVRLLRIFKVTR>H<WTSLSNLVASLLNSMKSIASLLLLLFLFII682
CACNA1EVVWAIFRPGTSFGISVLRALRLLRIFKITK>Y<WASLRNLVVSLMSSMKSIISLLFLLFLFIV615
CACNA1FTTLVEVGAMQPLGISVLRCVRLLRIFKVTR>H<WASLSNLVASLLNSMKSIASLLLLLFLFII668
CACNA1GIVGQQGG-----GLSVLRTFRLMRVLKLVR>F<LPALQRQLVVLMKTMDNVATFCMLLMLFIF877
CACNA1HIVGQADG-----GLSVLRTFRLLRVLKLVR>F<LPALRRQLVVLVKTMDNVATFCTLLMLFIF927
CACNA1IIVGQADG-----GLSVLRTFRLLRVLKLVR>F<MPALRRQLVVLMKTMDNVATFCMLLMLFIF774
CACNA1SILLVESGAMTPLGISVLRCIRLLRIFKITK>Y<WTSLSNLVASLLNSIRSIASLLLLLFLFIV571
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 821 for SCN5A.