Paralogue Annotation for SCN5A residue 1824

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1824
Reference Amino Acid: P - Proline
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1824

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FP1492ANight blindness, congenital stationary, incompleteHigh8 19578023

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.



SCN5AFYEIWEKFDPEATQFIEYSVLSDFADALSE>P<LR--IAK--PNQI---SLINMDLPMVSGD-1846
SCN1AFYEVWEKFDPDATQFMEFEKLSQFAAALEP>P<LN--LPQ--PNKL---QLIAMDLPMVSGD-1860
SCN2AFYEVWEKFDPDATQFIEFAKLSDFADALDP>P<LL--IAK--PNKV---QLIAMDLPMVSGD-1850
SCN3AFYEVWEKFDPDATQFIEFSKLSDFAAALDP>P<LL--IAK--PNKV---QLIAMDLPMVSGD-1845
SCN4AFYETWEKFDPDATQFIAYSRLSDFVDTLQE>P<LR--IAK--PNKI---KLITLDLPMVPGD-1672
SCN7AFFQVWKRFDPDRTQYIDSSKLSDFAAALDP>P<LF--MAK--PNKG---QLIALDLPMAVGD-1570
SCN8AFYEIWEKFDPDATQFIEYCKLADFADALEH>P<LR--VPK--PNTI---ELIAMDLPMVSGD-1840
SCN9AFYEVWEKFDPDATQFIEFSKLSDFAAALDP>P<LL--IAK--PNKV---QLIAMDLPMVSGD-1823
SCN10AFYETWEKFDPEATQFITFSALSDFADTLSG>P<LR--IPK--PNRN---ILIQMDLPLVPGD-1796
SCN11AFYEVWEKFDPEATQFIKYSALSDFADALPE>P<LR--VAK--PNKY---QFLVMDLPMVSED-1678
CACNA1AYVRVWAEYDPAACGRIHYKDMYSLLRVISP>P<LG--LGKKCPHRVACKRLLRMDLPVADD-N1889
CACNA1BFIRVWAEYDPAACGRISYNDMFEMLKHMSP>P<LG--LGKKCPARVAYKRLVRMNMPISNEDM1788
CACNA1CFKRIWAEYDPEAKGRIKHLDVVTLLRRIQP>P<LG--FGKLCPHRVACKRLVSMNMPLNSDG-1554
CACNA1DFKRIWSEYDPEAKGRIKHLDVVTLLRRIQP>P<LG--FGKLCPHRVACKRLVAMNMPLNSDG-1562
CACNA1EFVRVWAEYDRAACGRIHYTEMYEMLTLMSP>P<LG--LGKRCPSKVAYKRLVLMNMPVAED-M1801
CACNA1FFKRIWSEYDPGAKGRIKHLDVVALLRRIQP>P<LG--FGKLCPHRVACKRLVAMNMPLNSDG-1519
CACNA1GELELEMKT-LSPQPHSPLGSPF-LWPGVEG>P<DS--PDSPKPGAL---------HPAAHA-R1916
CACNA1HEIELEMAQGPGSARRVDADRP--------->P<LP--QESPG--AR--------DAPN-----1913
CACNA1IELELEMAHGLGPGPRLPTGSPGAPGR---G>P<GGAGGGGDT--EG---GLCRRCYSPAQE-N1800
CACNA1SFKAIWAEYDPEAKGRIKHLDVVTLLRRIQP>P<LG--FGKFCPHRVACKRLVGMNMPLNSDG-1459
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1824Ac.5470C>G Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041