Paralogue Annotation for SCN5A residue 834

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 834
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 834

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AN876TOhtahara syndromeHigh9 23935176

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.



SCN5ALSVLRSFRLLRVFKLAKSWPTLNTLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKN864
SCN1ALSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS915
SCN2ALSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS906
SCN3ALSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS907
SCN4ALSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS725
SCN7AMALLRLFRMLRIFKLGKYWPTFQILMWSLS>N<SWVALKDLVLLLFTFIFFSAAFGMKLFGKN652
SCN8ALSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS900
SCN9ALSVLRSFRLLRVFKLAKSWPTLNMLIKIIG>N<SVGALGNLTLVLAIIVFIFAVVGMQLFGKS880
SCN10ALSVLRSFRLLRVFKLAKSWPTLNTLIKIIG>N<SVGALGNLTIILAIIVFVFALVGKQLLGEN812
SCN11AWPFLRSFRVLRVFKLAKSWPTLNTLIKIIG>N<SVGALGSLTVVLVIVIFIFSVVGMQLFGRS726
CACNA1AISVLRALRLLRIFKVTKYWASLRNLVVSLL>N<SMKSIISLLFLLFLFIVVFALLGMQLFGGQ639
CACNA1BISVLRALRLLRIFKVTKYWSSLRNLVVSLL>N<SMKSIISLLFLLFLFIVVFALLGMQLFGGQ635
CACNA1CISVLRCVRLLRIFKITRYWNSLSNLVASLL>N<SVRSIASLLLLLFLFIIIFSLLGMQLFGGK676
CACNA1DISVFRCVRLLRIFKVTRHWTSLSNLVASLL>N<SMKSIASLLLLLFLFIIIFSLLGMQLFGGK695
CACNA1EISVLRALRLLRIFKITKYWASLRNLVVSLM>S<SMKSIISLLFLLFLFIVVFALLGMQLFGGR628
CACNA1FISVLRCVRLLRIFKVTRHWASLSNLVASLL>N<SMKSIASLLLLLFLFIIIFSLLGMQLFGGK681
CACNA1GLSVLRTFRLMRVLKLVRFLPALQRQLVVLM>K<TMDNVATFCMLLMLFIFIFSILGMHLFGCK890
CACNA1HLSVLRTFRLLRVLKLVRFLPALRRQLVVLV>K<TMDNVATFCTLLMLFIFIFSILGMHLFGCK940
CACNA1ILSVLRTFRLLRVLKLVRFMPALRRQLVVLM>K<TMDNVATFCMLLMLFIFIFSILGMHIFGCK787
CACNA1SISVLRCIRLLRIFKITKYWTSLSNLVASLL>N<SIRSIASLLLLLFLFIVIFALLGMQLFGGR584
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N834Dc.2500A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430