Paralogue Annotation for SCN5A residue 850

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 850
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 850

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AV892INeonatal-infantile seizuresHigh9 15048894

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.



SCN5AKSWPTLNTLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKNYSEL-RDS----D-SG874
SCN1AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKDC-VCK----I-AS925
SCN2AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKEC-VCK----I-SN916
SCN3AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKEC-VCK----I-ND917
SCN4AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKEC-VCK----I-AL735
SCN7AKYWPTFQILMWSLSNSWVALKDLVLLLFTF>I<FFSAAFGMKLFGKNYEEF-VCH----I-DK662
SCN8AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKEC-VCK----I-NQ910
SCN9AKSWPTLNMLIKIIGNSVGALGNLTLVLAII>V<FIFAVVGMQLFGKSYKEC-VCK----I-ND890
SCN10AKSWPTLNTLIKIIGNSVGALGNLTIILAII>V<FVFALVGKQLLGENYRNN-RKN----I-SA822
SCN11AKSWPTLNTLIKIIGNSVGALGSLTVVLVIV>I<FIFSVVGMQLFGRSFNSQ-KSPKLCNPTGP741
CACNA1AKYWASLRNLVVSLLNSMKSIISLLFLLFLF>I<VVFALLGMQLFGGQFNFD-E----------644
CACNA1BKYWSSLRNLVVSLLNSMKSIISLLFLLFLF>I<VVFALLGMQLFGGQFNFQ-D----------640
CACNA1CRYWNSLSNLVASLLNSVRSIASLLLLLFLF>I<IIFSLLGMQLFGGKFNFD-E----------681
CACNA1DRHWTSLSNLVASLLNSMKSIASLLLLLFLF>I<IIFSLLGMQLFGGKFNFD-E----------700
CACNA1EKYWASLRNLVVSLMSSMKSIISLLFLLFLF>I<VVFALLGMQLFGGRFNFN-D----------633
CACNA1FRHWASLSNLVASLLNSMKSIASLLLLLFLF>I<IIFSLLGMQLFGGKFNFD-Q----------686
CACNA1GRFLPALQRQLVVLMKTMDNVATFCMLLMLF>I<FIFSILGMHLFGCKFASER---------DG897
CACNA1HRFLPALRRQLVVLVKTMDNVATFCTLLMLF>I<FIFSILGMHLFGCKFSLKTD--------TG948
CACNA1IRFMPALRRQLVVLMKTMDNVATFCMLLMLF>I<FIFSILGMHIFGCKFSLRTD--------TG795
CACNA1SKYWTSLSNLVASLLNSIRSIASLLLLLFLF>I<VIFALLGMQLFGGRYDFE-D----------589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 850 for SCN5A.