Paralogue Annotation for SCN5A residue 1450

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1450
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1450

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1463SMyoclonic epilepsy of infancyHigh9 12821740
SCN1AF1463LDravet syndromeHigh9 21844054

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.



SCN5AGWMDIMYAAVDSRGYEEQPQWEYNLYMYIY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKL1480
SCN1AGWMDIMYAAVDSRNVELQPKYEESLYMYLY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF1493
SCN2AGWMDIMYAAVDSRNVELQPKYEDNLYMYLY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF1483
SCN3AGWMDIMYAAVDSRDVKLQPVYEENLYMYLY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF1478
SCN4AGWMDIMYAAVDSREKEEQPQYEVNLYMYLY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKL1305
SCN7AGWITIMNSAIDSVAVNIQPHFEVNIYMYCY>F<INFIIFGVFLPLSMLITVIIDNFNKHKIKL1203
SCN8AGWMDIMYAAVDSRKPDEQPKYEDNIYMYIY>F<VIFIIFGSFFTLNLFIGVIIDNFNQQKKKF1474
SCN9AGWTIIMYAAVDSVNVDKQPKYEYSLYMYIY>F<VVFIIFGSFFTLNLFIGVIIDNFNQQKKKL1456
SCN10AGWMDIMYAAVDSREVNMQPKWEDNVYMYLY>F<VIFIIFGGFFTLNLFVGVIIDNFNQQKKKL1428
SCN11AGWMDIIYAAVDSTEKEQQPEFESNSLGYIY>F<VVFIIFGSFFTLNLFIGVIIDNFNQQQKKL1318
CACNA1AGWPQVLKHSVDATFENQGPSPGYRMEMSIF>Y<VVYFVVFPFFFVNIFVALIIITFQEQGDKM1521
CACNA1BGWPMVLKHSVDATYEEQGPSPGYRMELSIF>Y<VVYFVVFPFFFVNIFVALIIITFQEQGDKV1427
CACNA1CGWPELLYRSIDSHTEDKGPIYNYRVEISIF>F<IIYIIIIAFFMMNIFVGFVIVTFQEQGEQE1176
CACNA1DGWPALLYKAIDSNGENIGPIYNHRVEISIF>F<IIYIIIVAFFMMNIFVGFVIVTFQEQGEKE1182
CACNA1EGWPQVLQHSVDVTEEDRGPSRSNRMEMSIF>Y<VVYFVVFPFFFVNIFVALIIITFQEQGDKM1433
CACNA1FGWPALLYKAIDAYAEDHGPIYNYRVEISVF>F<IVYIIIIAFFMMNIFVGFVIITFRAQGEQE1147
CACNA1GGWVDIMYDGLDAVGVDQQPIMNHNPWMLLY>F<ISFLLIVAFFVLNMFVGVVVENFHKCRQHQ1547
CACNA1HGWVNIMYDGLDAVGVDQQPVQNHNPWMLLY>F<ISFLLIVSFFVLNMFVGVVVENFHKCRQHQ1565
CACNA1IGWVNIMYNGLDAVAVDQQPVTNHNPWMLLY>F<ISFLLIVSFFVLNMFVGVVVENFHKCRQHQ1441
CACNA1SGWPQLLYKAIDSNAEDVGPIYNNRVEMAIF>F<IIYIILIAFFMMNIFVGFVIVTFQEQGETE1075
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1450 for SCN5A.