Paralogue Annotation for SCN5A residue 1464

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1464
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1464

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HM1549VAldosteronism, primaryMedium9 25907736, 25907736
SCN11AL1302FCongenital indifference to painHigh9 26746779

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.



SCN5AYEEQPQWEYNLYMYIYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKLGGQDIFMTEEQKKY1494
SCN1AVELQPKYEESLYMYLYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKFGGQDIFMTEEQKKY1507
SCN2AVELQPKYEDNLYMYLYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKFGGQDIFMTEEQKKY1497
SCN3AVKLQPVYEENLYMYLYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKFGGQDIFMTEEQKKY1492
SCN4AKEEQPQYEVNLYMYLYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKLGGKDIFMTEEQKKY1319
SCN7AVNIQPHFEVNIYMYCYFINFIIFGVFLPLS>M<LITVIIDNFNKHKIKLGGSNIFITVKQRKQ1217
SCN8APDEQPKYEDNIYMYIYFVIFIIFGSFFTLN>L<FIGVIIDNFNQQKKKFGGQDIFMTEEQKKY1488
SCN9AVDKQPKYEYSLYMYIYFVVFIIFGSFFTLN>L<FIGVIIDNFNQQKKKLGGQDIFMTEEQKKY1470
SCN10AVNMQPKWEDNVYMYLYFVIFIIFGGFFTLN>L<FVGVIIDNFNQQKKKLGGQDIFMTEEQKKY1442
SCN11AKEQQPEFESNSLGYIYFVVFIIFGSFFTLN>L<FIGVIIDNFNQQQKKLGGQDIFMTEEQKKY1332
CACNA1AENQGPSPGYRMEMSIFYVVYFVVFPFFFVN>I<FVALIIITFQEQGDKM----MEEYSLEKNE1531
CACNA1BEEQGPSPGYRMELSIFYVVYFVVFPFFFVN>I<FVALIIITFQEQGDKV----MSECSLEKNE1437
CACNA1CEDKGPIYNYRVEISIFFIIYIIIIAFFMMN>I<FVGFVIVTFQEQGEQE----YKNCELDKNQ1186
CACNA1DENIGPIYNHRVEISIFFIIYIIIVAFFMMN>I<FVGFVIVTFQEQGEKE----YKNCELDKNQ1192
CACNA1EEDRGPSRSNRMEMSIFYVVYFVVFPFFFVN>I<FVALIIITFQEQGDKM----MEECSLEKNE1443
CACNA1FEDHGPIYNYRVEISVFFIVYIIIIAFFMMN>I<FVGFVIITFRAQGEQE----YQNCELDKNQ1157
CACNA1GVDQQPIMNHNPWMLLYFISFLLIVAFFVLN>M<FVGVVVENFHKCRQHQEEEEARRREEKRLR1561
CACNA1HVDQQPVQNHNPWMLLYFISFLLIVSFFVLN>M<FVGVVVENFHKCRQHQEAEEARRREEK---1576
CACNA1IVDQQPVTNHNPWMLLYFISFLLIVSFFVLN>M<FVGVVVENFHKCRQHQEAEEARRREEK---1452
CACNA1SEDVGPIYNNRVEMAIFFIIYIILIAFFMMN>I<FVGFVIVTFQEQGETE----YKNCELDKNQ1085
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1464 for SCN5A.