Paralogue Annotation for SCN5A residue 1478

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1478
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker III-IV


Paralogue Variants mapped to SCN5A residue 1478

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1FE1145KNight blindness, congenital stationary, incompleteMedium5 19578023

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.



SCN5AIYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KLGGQDIFMTEEQKKYY------NAM---K1499
SCN1ALYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KFGGQDIFMTEEQKKYY------NAM---K1512
SCN2ALYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KFGGQDIFMTEEQKKYY------NAM---K1502
SCN3ALYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KFGGQDIFMTEEQKKYY------NAM---K1497
SCN4ALYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KLGGKDIFMTEEQKKYY------NAM---K1324
SCN7ACYFINFIIFGVFLPLSMLITVIIDNFNKHK>I<KLGGSNIFITVKQRKQY------RRL---K1222
SCN8AIYFVIFIIFGSFFTLNLFIGVIIDNFNQQK>K<KFGGQDIFMTEEQKKYY------NAM---K1493
SCN9AIYFVVFIIFGSFFTLNLFIGVIIDNFNQQK>K<KLGGQDIFMTEEQKKYY------NAM---K1475
SCN10ALYFVIFIIFGGFFTLNLFVGVIIDNFNQQK>K<KLGGQDIFMTEEQKKYY------NAM---K1447
SCN11AIYFVVFIIFGSFFTLNLFIGVIIDNFNQQQ>K<KLGGQDIFMTEEQKKYY------NAM---K1337
CACNA1AIFYVVYFVVFPFFFVNIFVALIIITFQEQG>D<KM----MEEYSLEKNER------ACI---D1536
CACNA1BIFYVVYFVVFPFFFVNIFVALIIITFQEQG>D<KV----MSECSLEKNER------ACI---D1442
CACNA1CIFFIIYIIIIAFFMMNIFVGFVIVTFQEQG>E<QE----YKNCELDKNQR------QCV---E1191
CACNA1DIFFIIYIIIVAFFMMNIFVGFVIVTFQEQG>E<KE----YKNCELDKNQR------QCV---E1197
CACNA1EIFYVVYFVVFPFFFVNIFVALIIITFQEQG>D<KM----MEECSLEKNER------ACI---D1448
CACNA1FVFFIVYIIIIAFFMMNIFVGFVIITFRAQG>E<QE----YQNCELDKNQR------QCV---E1162
CACNA1GLYFISFLLIVAFFVLNMFVGVVVENFHKCR>Q<HQEEEEARRREEKRLRRLEKKRRNLML--D1573
CACNA1HLYFISFLLIVSFFVLNMFVGVVVENFHKCR>Q<HQEAEEARRREEK----------RLRRLER1583
CACNA1ILYFISFLLIVSFFVLNMFVGVVVENFHKCR>Q<HQEAEEARRREEK----------RLRRLEK1459
CACNA1SIFFIIYIILIAFFMMNIFVGFVIVTFQEQG>E<TE----YKNCELDKNQR------QCV---Q1090
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1478 for SCN5A.