Paralogue Annotation for SCN5A residue 1440

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1440
Reference Amino Acid: W - Tryptophan
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1440

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY1453CMyoclonic epilepsy, borderlineMedium9 23195492
SCN1AY1453XDravet syndromeMedium9 18930999, 25525159

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.



SCN5ALALLQVATFKGWMDIMYAAVDSRGYEEQPQ>W<EYNLYMYIYFVIFIIFGSFFTLNLFIGVII1470
SCN1ALSLLQVATFKGWMDIMYAAVDSRNVELQPK>Y<EESLYMYLYFVIFIIFGSFFTLNLFIGVII1483
SCN2ALSLLQVATFKGWMDIMYAAVDSRNVELQPK>Y<EDNLYMYLYFVIFIIFGSFFTLNLFIGVII1473
SCN3ALALLQVATFKGWMDIMYAAVDSRDVKLQPV>Y<EENLYMYLYFVIFIIFGSFFTLNLFIGVII1468
SCN4ALSLLQVATFKGWMDIMYAAVDSREKEEQPQ>Y<EVNLYMYLYFVIFIIFGSFFTLNLFIGVII1295
SCN7ALSLLQVATFNGWITIMNSAIDSVAVNIQPH>F<EVNIYMYCYFINFIIFGVFLPLSMLITVII1193
SCN8ALALLQVATFKGWMDIMYAAVDSRKPDEQPK>Y<EDNIYMYIYFVIFIIFGSFFTLNLFIGVII1464
SCN9ALSLLQVATFKGWTIIMYAAVDSVNVDKQPK>Y<EYSLYMYIYFVVFIIFGSFFTLNLFIGVII1446
SCN10ALALLQVATFKGWMDIMYAAVDSREVNMQPK>W<EDNVYMYLYFVIFIIFGGFFTLNLFVGVII1418
SCN11ALALLQVATFKGWMDIIYAAVDSTEKEQQPE>F<ESNSLGYIYFVVFIIFGSFFTLNLFIGVII1308
CACNA1ALTLFTVSTGEGWPQVLKHSVDATFENQGPS>P<GYRMEMSIFYVVYFVVFPFFFVNIFVALII1511
CACNA1BLTLFTVSTGEGWPMVLKHSVDATYEEQGPS>P<GYRMELSIFYVVYFVVFPFFFVNIFVALII1417
CACNA1CMALFTVSTFEGWPELLYRSIDSHTEDKGPI>Y<NYRVEISIFFIIYIIIIAFFMMNIFVGFVI1166
CACNA1DMALFTVSTFEGWPALLYKAIDSNGENIGPI>Y<NHRVEISIFFIIYIIIVAFFMMNIFVGFVI1172
CACNA1ELTLFTVSTGEGWPQVLQHSVDVTEEDRGPS>R<SNRMEMSIFYVVYFVVFPFFFVNIFVALII1423
CACNA1FMALFTVSTFEGWPALLYKAIDAYAEDHGPI>Y<NYRVEISVFFIVYIIIIAFFMMNIFVGFVI1137
CACNA1GMSLFVLASKDGWVDIMYDGLDAVGVDQQPI>M<NHNPWMLLYFISFLLIVAFFVLNMFVGVVV1537
CACNA1HMSLFVLSSKDGWVNIMYDGLDAVGVDQQPV>Q<NHNPWMLLYFISFLLIVSFFVLNMFVGVVV1555
CACNA1IMSLFVLASKDGWVNIMYNGLDAVAVDQQPV>T<NHNPWMLLYFISFLLIVSFFVLNMFVGVVV1431
CACNA1SMSLFTVSTFEGWPQLLYKAIDSNAEDVGPI>Y<NNRVEMAIFFIIYIILIAFFMMNIFVGFVI1065
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1440 for SCN5A.