Paralogue Annotation for SCN5A residue 1416

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1416
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1416

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA1429DIntractable epilepsyHigh9 23195492
SCN1AA1429SDevelopmental disorder and intellectual disabilityHigh9 23032131

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.



SCN5ANLTGE--LYWTKVKVNFDNVGAGYLALLQV>A<TFKGWMDIMYAAVDSRGYEEQPQWEYNLYM1446
SCN1AIERNET-ARWKNVKVNFDNVGFGYLSLLQV>A<TFKGWMDIMYAAVDSRNVELQPKYEESLYM1459
SCN2AIESNQT-ARWKNVKVNFDNVGLGYLSLLQV>A<TFKGWMDIMYAAVDSRNVELQPKYEDNLYM1449
SCN3AGK--Q--ARWKNVKVNFDNVGAGYLALLQV>A<TFKGWMDIMYAAVDSRDVKLQPVYEENLYM1444
SCN4AMHTGQ--VRWLNVKVNYDNVGLGYLSLLQV>A<TFKGWMDIMYAAVDSREKEEQPQYEVNLYM1271
SCN7ALFNES--MLWENAKMNFDNVGNGFLSLLQV>A<TFNGWITIMNSAIDSVAVNIQPHFEVNIYM1169
SCN8AMEGNNTEIRWKNVKINFDNVGAGYLALLQV>A<TFKGWMDIMYAAVDSRKPDEQPKYEDNIYM1440
SCN9AMNVSQN-VRWKNLKVNFDNVGLGYLSLLQV>A<TFKGWTIIMYAAVDSVNVDKQPKYEYSLYM1422
SCN10ANSTGS--FFWVNVKVNFDNVAMGYLALLQV>A<TFKGWMDIMYAAVDSREVNMQPKWEDNVYM1394
SCN11AN------FSWINQKVNFDNVGNAYLALLQV>A<TFKGWMDIIYAAVDSTEKEQQPEFESNSLG1284
CACNA1A--AR--DREWKKYEFHYDNVLWALLTLFTV>S<TGEGWPQVLKHSVDATFENQGPSPGYRMEM1487
CACNA1B--AQ--PRQWKKYDFHYDNVLWALLTLFTV>S<TGEGWPMVLKHSVDATYEEQGPSPGYRMEL1393
CACNA1C-IIQ--PRSWENSKFDFDNVLAAMMALFTV>S<TFEGWPELLYRSIDSHTEDKGPIYNYRVEI1142
CACNA1D-VVR--ERIWQNSDFNFDNVLSAMMALFTV>S<TFEGWPALLYKAIDSNGENIGPIYNHRVEI1148
CACNA1E--VK--GREWKRHEFHYDNIIWALLTLFTV>S<TGEGWPQVLQHSVDVTEEDRGPSRSNRMEM1399
CACNA1F-LVR--ERLWVNSDFNFDNVLSAMMALFTV>S<TFEGWPALLYKAIDAYAEDHGPIYNYRVEI1113
CACNA1G--EA--SYRWVRHKYNFDNLGQALMSLFVL>A<SKDGWVDIMYDGLDAVGVDQQPIMNHNPWM1513
CACNA1H--AA--HYRWVRRKYNFDNLGQALMSLFVL>S<SKDGWVNIMYDGLDAVGVDQQPVQNHNPWM1531
CACNA1I--AA--NYRWVHHKYNFDNLGQALMSLFVL>A<SKDGWVNIMYNGLDAVAVDQQPVTNHNPWM1407
CACNA1S-ELR--HREWVHSDFHFDNVLSAMMSLFTV>S<TFEGWPQLLYKAIDSNAEDVGPIYNNRVEM1041
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1416Ec.4247C>A Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome. Hum Mol Genet. 2015 24(10):2757-63. doi: 10.1093/hmg/ddv036. 25650408