Paralogue Annotation for SCN5A residue 1417

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1417
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1417

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN2AT1420MAutism spectrum disorderHigh9 25849321

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.



SCN5ALTGE--LYWTKVKVNFDNVGAGYLALLQVA>T<FKGWMDIMYAAVDSRGYEEQPQWEYNLYMY1447
SCN1AERNET-ARWKNVKVNFDNVGFGYLSLLQVA>T<FKGWMDIMYAAVDSRNVELQPKYEESLYMY1460
SCN2AESNQT-ARWKNVKVNFDNVGLGYLSLLQVA>T<FKGWMDIMYAAVDSRNVELQPKYEDNLYMY1450
SCN3AK--Q--ARWKNVKVNFDNVGAGYLALLQVA>T<FKGWMDIMYAAVDSRDVKLQPVYEENLYMY1445
SCN4AHTGQ--VRWLNVKVNYDNVGLGYLSLLQVA>T<FKGWMDIMYAAVDSREKEEQPQYEVNLYMY1272
SCN7AFNES--MLWENAKMNFDNVGNGFLSLLQVA>T<FNGWITIMNSAIDSVAVNIQPHFEVNIYMY1170
SCN8AEGNNTEIRWKNVKINFDNVGAGYLALLQVA>T<FKGWMDIMYAAVDSRKPDEQPKYEDNIYMY1441
SCN9ANVSQN-VRWKNLKVNFDNVGLGYLSLLQVA>T<FKGWTIIMYAAVDSVNVDKQPKYEYSLYMY1423
SCN10ASTGS--FFWVNVKVNFDNVAMGYLALLQVA>T<FKGWMDIMYAAVDSREVNMQPKWEDNVYMY1395
SCN11A------FSWINQKVNFDNVGNAYLALLQVA>T<FKGWMDIIYAAVDSTEKEQQPEFESNSLGY1285
CACNA1A-AR--DREWKKYEFHYDNVLWALLTLFTVS>T<GEGWPQVLKHSVDATFENQGPSPGYRMEMS1488
CACNA1B-AQ--PRQWKKYDFHYDNVLWALLTLFTVS>T<GEGWPMVLKHSVDATYEEQGPSPGYRMELS1394
CACNA1CIIQ--PRSWENSKFDFDNVLAAMMALFTVS>T<FEGWPELLYRSIDSHTEDKGPIYNYRVEIS1143
CACNA1DVVR--ERIWQNSDFNFDNVLSAMMALFTVS>T<FEGWPALLYKAIDSNGENIGPIYNHRVEIS1149
CACNA1E-VK--GREWKRHEFHYDNIIWALLTLFTVS>T<GEGWPQVLQHSVDVTEEDRGPSRSNRMEMS1400
CACNA1FLVR--ERLWVNSDFNFDNVLSAMMALFTVS>T<FEGWPALLYKAIDAYAEDHGPIYNYRVEIS1114
CACNA1G-EA--SYRWVRHKYNFDNLGQALMSLFVLA>S<KDGWVDIMYDGLDAVGVDQQPIMNHNPWML1514
CACNA1H-AA--HYRWVRRKYNFDNLGQALMSLFVLS>S<KDGWVNIMYDGLDAVGVDQQPVQNHNPWML1532
CACNA1I-AA--NYRWVHHKYNFDNLGQALMSLFVLA>S<KDGWVNIMYNGLDAVAVDQQPVTNHNPWML1408
CACNA1SELR--HREWVHSDFHFDNVLSAMMSLFTVS>T<FEGWPQLLYKAIDSNAEDVGPIYNNRVEMA1042
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1417 for SCN5A.