Paralogue Annotation for SCN5A residue 848

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 848
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 848

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI899TGeneralized epilepsy with febrile seizures plusHigh9 19522081, 23934111

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.



SCN5ALAKSWPTLNTLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKNYSEL-RDS----D-872
SCN1ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKDC-VCK----I-923
SCN2ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-914
SCN3ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-915
SCN4ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-733
SCN7ALGKYWPTFQILMWSLSNSWVALKDLVLLLF>T<FIFFSAAFGMKLFGKNYEEF-VCH----I-660
SCN8ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-908
SCN9ALAKSWPTLNMLIKIIGNSVGALGNLTLVLA>I<IVFIFAVVGMQLFGKSYKEC-VCK----I-888
SCN10ALAKSWPTLNTLIKIIGNSVGALGNLTIILA>I<IVFVFALVGKQLLGENYRNN-RKN----I-820
SCN11ALAKSWPTLNTLIKIIGNSVGALGSLTVVLV>I<VIFIFSVVGMQLFGRSFNSQ-KSPKLCNPT739
CACNA1AVTKYWASLRNLVVSLLNSMKSIISLLFLLF>L<FIVVFALLGMQLFGGQFNFD-E--------644
CACNA1BVTKYWSSLRNLVVSLLNSMKSIISLLFLLF>L<FIVVFALLGMQLFGGQFNFQ-D--------640
CACNA1CITRYWNSLSNLVASLLNSVRSIASLLLLLF>L<FIIIFSLLGMQLFGGKFNFD-E--------681
CACNA1DVTRHWTSLSNLVASLLNSMKSIASLLLLLF>L<FIIIFSLLGMQLFGGKFNFD-E--------700
CACNA1EITKYWASLRNLVVSLMSSMKSIISLLFLLF>L<FIVVFALLGMQLFGGRFNFN-D--------633
CACNA1FVTRHWASLSNLVASLLNSMKSIASLLLLLF>L<FIIIFSLLGMQLFGGKFNFD-Q--------686
CACNA1GLVRFLPALQRQLVVLMKTMDNVATFCMLLM>L<FIFIFSILGMHLFGCKFASER---------895
CACNA1HLVRFLPALRRQLVVLVKTMDNVATFCTLLM>L<FIFIFSILGMHLFGCKFSLKTD--------946
CACNA1ILVRFMPALRRQLVVLMKTMDNVATFCMLLM>L<FIFIFSILGMHIFGCKFSLRTD--------793
CACNA1SITKYWTSLSNLVASLLNSIRSIASLLLLLF>L<FIVIFALLGMQLFGGRYDFE-D--------589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I848Fc.2542A>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085