Paralogue Annotation for SCN5A residue 1414

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1414
Reference Amino Acid: Q - Glutamine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1414

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AQ1427PMyoclonic epilepsy of infancyHigh9 23195492
SCN1AQ1427XMyoclonic epilepsy of infancyHigh9 17347258, 25525159
CACNA1ST1009KMalignant hyperthermiaMedium9 24013571, 25658027

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.



SCN5ASLNLTGE--LYWTKVKVNFDNVGAGYLALL>Q<VATFKGWMDIMYAAVDSRGYEEQPQWEYNL1444
SCN1AKLIERNET-ARWKNVKVNFDNVGFGYLSLL>Q<VATFKGWMDIMYAAVDSRNVELQPKYEESL1457
SCN2AALIESNQT-ARWKNVKVNFDNVGLGYLSLL>Q<VATFKGWMDIMYAAVDSRNVELQPKYEDNL1447
SCN3AALGK--Q--ARWKNVKVNFDNVGAGYLALL>Q<VATFKGWMDIMYAAVDSRDVKLQPVYEENL1442
SCN4ASLMHTGQ--VRWLNVKVNYDNVGLGYLSLL>Q<VATFKGWMDIMYAAVDSREKEEQPQYEVNL1269
SCN7ASLLFNES--MLWENAKMNFDNVGNGFLSLL>Q<VATFNGWITIMNSAIDSVAVNIQPHFEVNI1167
SCN8AKLMEGNNTEIRWKNVKINFDNVGAGYLALL>Q<VATFKGWMDIMYAAVDSRKPDEQPKYEDNI1438
SCN9AALMNVSQN-VRWKNLKVNFDNVGLGYLSLL>Q<VATFKGWTIIMYAAVDSVNVDKQPKYEYSL1420
SCN10AIQNSTGS--FFWVNVKVNFDNVAMGYLALL>Q<VATFKGWMDIMYAAVDSREVNMQPKWEDNV1392
SCN11ASGN------FSWINQKVNFDNVGNAYLALL>Q<VATFKGWMDIIYAAVDSTEKEQQPEFESNS1282
CACNA1A----AR--DREWKKYEFHYDNVLWALLTLF>T<VSTGEGWPQVLKHSVDATFENQGPSPGYRM1485
CACNA1B----AQ--PRQWKKYDFHYDNVLWALLTLF>T<VSTGEGWPMVLKHSVDATYEEQGPSPGYRM1391
CACNA1CHP-IIQ--PRSWENSKFDFDNVLAAMMALF>T<VSTFEGWPELLYRSIDSHTEDKGPIYNYRV1140
CACNA1DSP-VVR--ERIWQNSDFNFDNVLSAMMALF>T<VSTFEGWPALLYKAIDSNGENIGPIYNHRV1146
CACNA1E----VK--GREWKRHEFHYDNIIWALLTLF>T<VSTGEGWPQVLQHSVDVTEEDRGPSRSNRM1397
CACNA1FRP-LVR--ERLWVNSDFNFDNVLSAMMALF>T<VSTFEGWPALLYKAIDAYAEDHGPIYNYRV1111
CACNA1G----EA--SYRWVRHKYNFDNLGQALMSLF>V<LASKDGWVDIMYDGLDAVGVDQQPIMNHNP1511
CACNA1H----AA--HYRWVRRKYNFDNLGQALMSLF>V<LSSKDGWVNIMYDGLDAVGVDQQPVQNHNP1529
CACNA1I----AA--NYRWVHHKYNFDNLGQALMSLF>V<LASKDGWVNIMYNGLDAVAVDQQPVTNHNP1405
CACNA1SQI-ELR--HREWVHSDFHFDNVLSAMMSLF>T<VSTFEGWPQLLYKAIDSNAEDVGPIYNNRV1039
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1414 for SCN5A.