Paralogue Annotation for SCN5A residue 818

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 818
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 818

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FV635INight blindness, congenital stationary, incompleteMedium9 12187427, 26355662

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.



SCN5ALMELGLSRMS-----NLSVLRSFRLLRVFK>L<AKSWPTLNTLIKIIGNSVGALGNLTLVLAI848
SCN1ALVELGLANVE-----GLSVLRSFRLLRVFK>L<AKSWPTLNMLIKIIGNSVGALGNLTLVLAI899
SCN2ALMELGLANVE-----GLSVLRSFRLLRVFK>L<AKSWPTLNMLIKIIGNSVGALGNLTLVLAI890
SCN3ALMELGLSNVE-----GLSVLRSFRLLRVFK>L<AKSWPTLNMLIKIIGNSVGALGNLTLVLAI891
SCN4ALVELGLANVQ-----GLSVLRSFRLLRVFK>L<AKSWPTLNMLIKIIGNSVGALGNLTLVLAI709
SCN7ALIELCLANVA-----GMALLRLFRMLRIFK>L<GKYWPTFQILMWSLSNSWVALKDLVLLLFT636
SCN8ALMELSLADVE-----GLSVLRSFRLLRVFK>L<AKSWPTLNMLIKIIGNSVGALGNLTLVLAI884
SCN9ALVELFLADVE-----GLSVLRSFRLLRVFK>L<AKSWPTLNMLIKIIGNSVGALGNLTLVLAI864
SCN10ALLELGVAKKG-----SLSVLRSFRLLRVFK>L<AKSWPTLNTLIKIIGNSVGALGNLTIILAI796
SCN11AFADVMNCVLQKR---SWPFLRSFRVLRVFK>L<AKSWPTLNTLIKIIGNSVGALGSLTVVLVI710
CACNA1AIFEVIWAVIKPGTSFGISVLRALRLLRIFK>V<TKYWASLRNLVVSLLNSMKSIISLLFLLFL623
CACNA1BVFEVVWAAIKPGSSFGISVLRALRLLRIFK>V<TKYWSSLRNLVVSLLNSMKSIISLLFLLFL619
CACNA1CILETILVETKIMSPLGISVLRCVRLLRIFK>I<TRYWNSLSNLVASLLNSVRSIASLLLLLFL660
CACNA1DITETILVELEIMSPLGISVFRCVRLLRIFK>V<TRHWTSLSNLVASLLNSMKSIASLLLLLFL679
CACNA1EIFEVVWAIFRPGTSFGISVLRALRLLRIFK>I<TKYWASLRNLVVSLMSSMKSIISLLFLLFL612
CACNA1FILETTLVEVGAMQPLGISVLRCVRLLRIFK>V<TRHWASLSNLVASLLNSMKSIASLLLLLFL665
CACNA1GVWEIVGQQGG-----GLSVLRTFRLMRVLK>L<VRFLPALQRQLVVLMKTMDNVATFCMLLML874
CACNA1HVWEIVGQADG-----GLSVLRTFRLLRVLK>L<VRFLPALRRQLVVLVKTMDNVATFCTLLML924
CACNA1IIWEIVGQADG-----GLSVLRTFRLLRVLK>L<VRFMPALRRQLVVLMKTMDNVATFCMLLML771
CACNA1SILEILLVESGAMTPLGISVLRCIRLLRIFK>I<TKYWTSLSNLVASLLNSIRSIASLLLLLFL568
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 818 for SCN5A.