Paralogue Annotation for SCN5A residue 843

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 843
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 843

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN4AT704MHyperkalaemic periodic paralysisHigh9 1659948, 16870577, 19077043, 10366610, 23527931, 26256659, 7809121

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.



SCN5ALRVFKLAKSWPTLNTLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKNYSEL-RDS-871
SCN1ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKDC-VCK-922
SCN2ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKEC-VCK-913
SCN3ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKEC-VCK-914
SCN4ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKEC-VCK-732
SCN7ALRIFKLGKYWPTFQILMWSLSNSWVALKDL>V<LLLFTFIFFSAAFGMKLFGKNYEEF-VCH-659
SCN8ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKEC-VCK-907
SCN9ALRVFKLAKSWPTLNMLIKIIGNSVGALGNL>T<LVLAIIVFIFAVVGMQLFGKSYKEC-VCK-887
SCN10ALRVFKLAKSWPTLNTLIKIIGNSVGALGNL>T<IILAIIVFVFALVGKQLLGENYRNN-RKN-819
SCN11ALRVFKLAKSWPTLNTLIKIIGNSVGALGSL>T<VVLVIVIFIFSVVGMQLFGRSFNSQ-KSPK734
CACNA1ALRIFKVTKYWASLRNLVVSLLNSMKSIISL>L<FLLFLFIVVFALLGMQLFGGQFNFD-E---644
CACNA1BLRIFKVTKYWSSLRNLVVSLLNSMKSIISL>L<FLLFLFIVVFALLGMQLFGGQFNFQ-D---640
CACNA1CLRIFKITRYWNSLSNLVASLLNSVRSIASL>L<LLLFLFIIIFSLLGMQLFGGKFNFD-E---681
CACNA1DLRIFKVTRHWTSLSNLVASLLNSMKSIASL>L<LLLFLFIIIFSLLGMQLFGGKFNFD-E---700
CACNA1ELRIFKITKYWASLRNLVVSLMSSMKSIISL>L<FLLFLFIVVFALLGMQLFGGRFNFN-D---633
CACNA1FLRIFKVTRHWASLSNLVASLLNSMKSIASL>L<LLLFLFIIIFSLLGMQLFGGKFNFD-Q---686
CACNA1GMRVLKLVRFLPALQRQLVVLMKTMDNVATF>C<MLLMLFIFIFSILGMHLFGCKFASER----895
CACNA1HLRVLKLVRFLPALRRQLVVLVKTMDNVATF>C<TLLMLFIFIFSILGMHLFGCKFSLKTD---946
CACNA1ILRVLKLVRFMPALRRQLVVLMKTMDNVATF>C<MLLMLFIFIFSILGMHIFGCKFSLRTD---793
CACNA1SLRIFKITKYWTSLSNLVASLLNSIRSIASL>L<LLLFLFIVIFALLGMQLFGGRYDFE-D---589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T843Ac.2527A>G Inherited ArrhythmiaLQTSrs199473165SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS [DNA-based diagnostics of long QT syndrome]. Tidsskr Nor Laegeforen. 2005 125(20):2783-6. 16244680
Inherited ArrhythmiaLQTS Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142