Paralogue Annotation for SCN5A residue 1465

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1465
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1465

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AF1507SHemiplegic migraineHigh9 20837964

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.



SCN5AEEQPQWEYNLYMYIYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKLGGQDIFMTEEQKKYY1495
SCN1AELQPKYEESLYMYLYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKFGGQDIFMTEEQKKYY1508
SCN2AELQPKYEDNLYMYLYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKFGGQDIFMTEEQKKYY1498
SCN3AKLQPVYEENLYMYLYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKFGGQDIFMTEEQKKYY1493
SCN4AEEQPQYEVNLYMYLYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKLGGKDIFMTEEQKKYY1320
SCN7ANIQPHFEVNIYMYCYFINFIIFGVFLPLSM>L<ITVIIDNFNKHKIKLGGSNIFITVKQRKQY1218
SCN8ADEQPKYEDNIYMYIYFVIFIIFGSFFTLNL>F<IGVIIDNFNQQKKKFGGQDIFMTEEQKKYY1489
SCN9ADKQPKYEYSLYMYIYFVVFIIFGSFFTLNL>F<IGVIIDNFNQQKKKLGGQDIFMTEEQKKYY1471
SCN10ANMQPKWEDNVYMYLYFVIFIIFGGFFTLNL>F<VGVIIDNFNQQKKKLGGQDIFMTEEQKKYY1443
SCN11AEQQPEFESNSLGYIYFVVFIIFGSFFTLNL>F<IGVIIDNFNQQQKKLGGQDIFMTEEQKKYY1333
CACNA1ANQGPSPGYRMEMSIFYVVYFVVFPFFFVNI>F<VALIIITFQEQGDKM----MEEYSLEKNER1532
CACNA1BEQGPSPGYRMELSIFYVVYFVVFPFFFVNI>F<VALIIITFQEQGDKV----MSECSLEKNER1438
CACNA1CDKGPIYNYRVEISIFFIIYIIIIAFFMMNI>F<VGFVIVTFQEQGEQE----YKNCELDKNQR1187
CACNA1DNIGPIYNHRVEISIFFIIYIIIVAFFMMNI>F<VGFVIVTFQEQGEKE----YKNCELDKNQR1193
CACNA1EDRGPSRSNRMEMSIFYVVYFVVFPFFFVNI>F<VALIIITFQEQGDKM----MEECSLEKNER1444
CACNA1FDHGPIYNYRVEISVFFIVYIIIIAFFMMNI>F<VGFVIITFRAQGEQE----YQNCELDKNQR1158
CACNA1GDQQPIMNHNPWMLLYFISFLLIVAFFVLNM>F<VGVVVENFHKCRQHQEEEEARRREEKRLRR1562
CACNA1HDQQPVQNHNPWMLLYFISFLLIVSFFVLNM>F<VGVVVENFHKCRQHQEAEEARRREEK----1576
CACNA1IDQQPVTNHNPWMLLYFISFLLIVSFFVLNM>F<VGVVVENFHKCRQHQEAEEARRREEK----1452
CACNA1SDVGPIYNNRVEMAIFFIIYIILIAFFMMNI>F<VGFVIVTFQEQGETE----YKNCELDKNQR1086
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1465 for SCN5A.