Paralogue Annotation for SCN5A residue 828

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 828
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 828

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AL689IHyperkalaemic periodic paralysisHigh9 11971097, 23401572
SCN4AL689VHyperkalaemic periodic paralysisHigh9 15534250

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.



SCN5A-----NLSVLRSFRLLRVFKLAKSWPTLNT>L<IKIIGNSVGALGNLTLVLAIIVFIFAVVGM858
SCN1A-----GLSVLRSFRLLRVFKLAKSWPTLNM>L<IKIIGNSVGALGNLTLVLAIIVFIFAVVGM909
SCN2A-----GLSVLRSFRLLRVFKLAKSWPTLNM>L<IKIIGNSVGALGNLTLVLAIIVFIFAVVGM900
SCN3A-----GLSVLRSFRLLRVFKLAKSWPTLNM>L<IKIIGNSVGALGNLTLVLAIIVFIFAVVGM901
SCN4A-----GLSVLRSFRLLRVFKLAKSWPTLNM>L<IKIIGNSVGALGNLTLVLAIIVFIFAVVGM719
SCN7A-----GMALLRLFRMLRIFKLGKYWPTFQI>L<MWSLSNSWVALKDLVLLLFTFIFFSAAFGM646
SCN8A-----GLSVLRSFRLLRVFKLAKSWPTLNM>L<IKIIGNSVGALGNLTLVLAIIVFIFAVVGM894
SCN9A-----GLSVLRSFRLLRVFKLAKSWPTLNM>L<IKIIGNSVGALGNLTLVLAIIVFIFAVVGM874
SCN10A-----SLSVLRSFRLLRVFKLAKSWPTLNT>L<IKIIGNSVGALGNLTIILAIIVFVFALVGK806
SCN11AKR---SWPFLRSFRVLRVFKLAKSWPTLNT>L<IKIIGNSVGALGSLTVVLVIVIFIFSVVGM720
CACNA1APGTSFGISVLRALRLLRIFKVTKYWASLRN>L<VVSLLNSMKSIISLLFLLFLFIVVFALLGM633
CACNA1BPGSSFGISVLRALRLLRIFKVTKYWSSLRN>L<VVSLLNSMKSIISLLFLLFLFIVVFALLGM629
CACNA1CIMSPLGISVLRCVRLLRIFKITRYWNSLSN>L<VASLLNSVRSIASLLLLLFLFIIIFSLLGM670
CACNA1DIMSPLGISVFRCVRLLRIFKVTRHWTSLSN>L<VASLLNSMKSIASLLLLLFLFIIIFSLLGM689
CACNA1EPGTSFGISVLRALRLLRIFKITKYWASLRN>L<VVSLMSSMKSIISLLFLLFLFIVVFALLGM622
CACNA1FAMQPLGISVLRCVRLLRIFKVTRHWASLSN>L<VASLLNSMKSIASLLLLLFLFIIIFSLLGM675
CACNA1G-----GLSVLRTFRLMRVLKLVRFLPALQR>Q<LVVLMKTMDNVATFCMLLMLFIFIFSILGM884
CACNA1H-----GLSVLRTFRLLRVLKLVRFLPALRR>Q<LVVLVKTMDNVATFCTLLMLFIFIFSILGM934
CACNA1I-----GLSVLRTFRLLRVLKLVRFMPALRR>Q<LVVLMKTMDNVATFCMLLMLFIFIFSILGM781
CACNA1SAMTPLGISVLRCIRLLRIFKITKYWTSLSN>L<VASLLNSIRSIASLLLLLFLFIVIFALLGM578
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L828Vc.2482C>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