Paralogue Annotation for SCN5A residue 819

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 819
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 819

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN11AA681DPainful peripheral neuropathyHigh9 24776970

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.



SCN5AMELGLSRMS-----NLSVLRSFRLLRVFKL>A<KSWPTLNTLIKIIGNSVGALGNLTLVLAII849
SCN1AVELGLANVE-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII900
SCN2AMELGLANVE-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII891
SCN3AMELGLSNVE-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII892
SCN4AVELGLANVQ-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII710
SCN7AIELCLANVA-----GMALLRLFRMLRIFKL>G<KYWPTFQILMWSLSNSWVALKDLVLLLFTF637
SCN8AMELSLADVE-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII885
SCN9AVELFLADVE-----GLSVLRSFRLLRVFKL>A<KSWPTLNMLIKIIGNSVGALGNLTLVLAII865
SCN10ALELGVAKKG-----SLSVLRSFRLLRVFKL>A<KSWPTLNTLIKIIGNSVGALGNLTIILAII797
SCN11AADVMNCVLQKR---SWPFLRSFRVLRVFKL>A<KSWPTLNTLIKIIGNSVGALGSLTVVLVIV711
CACNA1AFEVIWAVIKPGTSFGISVLRALRLLRIFKV>T<KYWASLRNLVVSLLNSMKSIISLLFLLFLF624
CACNA1BFEVVWAAIKPGSSFGISVLRALRLLRIFKV>T<KYWSSLRNLVVSLLNSMKSIISLLFLLFLF620
CACNA1CLETILVETKIMSPLGISVLRCVRLLRIFKI>T<RYWNSLSNLVASLLNSVRSIASLLLLLFLF661
CACNA1DTETILVELEIMSPLGISVFRCVRLLRIFKV>T<RHWTSLSNLVASLLNSMKSIASLLLLLFLF680
CACNA1EFEVVWAIFRPGTSFGISVLRALRLLRIFKI>T<KYWASLRNLVVSLMSSMKSIISLLFLLFLF613
CACNA1FLETTLVEVGAMQPLGISVLRCVRLLRIFKV>T<RHWASLSNLVASLLNSMKSIASLLLLLFLF666
CACNA1GWEIVGQQGG-----GLSVLRTFRLMRVLKL>V<RFLPALQRQLVVLMKTMDNVATFCMLLMLF875
CACNA1HWEIVGQADG-----GLSVLRTFRLLRVLKL>V<RFLPALRRQLVVLVKTMDNVATFCTLLMLF925
CACNA1IWEIVGQADG-----GLSVLRTFRLLRVLKL>V<RFMPALRRQLVVLMKTMDNVATFCMLLMLF772
CACNA1SLEILLVESGAMTPLGISVLRCIRLLRIFKI>T<KYWTSLSNLVASLLNSIRSIASLLLLLFLF569
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 819 for SCN5A.