Paralogue Annotation for SCN5A residue 1674

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1674
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1674

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF1687SMyoclonic epilepsy of infancyHigh9 17561957
CACNA1AI1710THemiplegic migraineMedium9 15452324

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.



SCN5ARTLLFALMMSLPALFNIGLLLFLVMFIYSI>F<GMANFAYVKW-----EAG-----IDDMFNF1694
SCN1ARTLLFALMMSLPALFNIGLLLFLVMFIYAI>F<GMSNFAYVKR-----EVG-----IDDMFNF1707
SCN2ARTLLFALMMSLPALFNIGLLLFLVMFIYAI>F<GMSNFAYVKR-----EVG-----IDDMFNF1697
SCN3ARTLLFALMMSLPALFNIGLLLFLVMFIYAI>F<GMSNFAYVKK-----EAG-----IDDMFNF1692
SCN4ARTLLFALMMSLPALFNIGLLLFLVMFIYSI>F<GMSNFAYVKK-----ESG-----IDDMFNF1519
SCN7AHNLMLPLMLSLPALLNIILLIFLVMFIYAV>F<GMYNFAYVKK-----EAG-----INDVSNF1417
SCN8ARTLLFALMMSLPALFNIGLLLFLVMFIFSI>F<GMSNFAYVKH-----EAG-----IDDMFNF1688
SCN9ARTLLFALMMSLPALFNIGLLLFLVMFIYAI>F<GMSNFAYVKK-----EDG-----INDMFNF1670
SCN10ARTLLFALMMSLPALFNIGLLLFLVMFIYSI>F<GMSSFPHVRW-----EAG-----IDDMFNF1644
SCN11ARTLLFALMMSLPSLFNIGLLLFLIMFIYAI>L<GMNWFSKVNP-----ESG-----IDDIFNF1534
CACNA1ARILLWTFVQSFKALPYVCLLIAMLFFIYAI>I<GMQVFGNIGIDVEDEDSDEDEFQITEHNNF1739
CACNA1BRILLWTFVQSFKALPYVCLLIAMLFFIYAI>I<GMQVFGNIALDD---DTS-----INRHNNF1639
CACNA1CRTLLWTFIKSFQALPYVALLIVMLFFIYAV>I<GMQVFGKIALND---TTE-----INRNNNF1399
CACNA1DRTLLWTFIKSFQALPYVALLIAMLFFIYAV>I<GMQMFGKVAMRD---NNQ-----INRNNNF1409
CACNA1ERILLWTFVQSFKALPYVCLLIAMLFFIYAI>I<GMQVFGNIKLDE---ESH-----INRHNNF1646
CACNA1FRTLLWTFIKSFQALPYVALLIAMIFFIYAV>I<GMQMFGKVALQD---GTQ-----INRNNNF1366
CACNA1GRALLDTVMQALPQVGNLGLLFMLLFFIFAA>L<GVELFGDLECDET---HP--CEGLGRHATF1785
CACNA1HRALLDTVVQALPQVGNLGLLFMLLFFIYAA>L<GVELFGRLECSED---NP--CEGLSRHATF1791
CACNA1IRALLDTVVQALPQVGNLGLLFMLLFFIYAA>L<GVELFGKLVCNDE---NP--CEGMSRHATF1661
CACNA1SRTLLWTFIKSFQALPYVALLIVMLFFIYAV>I<GMQMFGKIALVD---GTQ-----INRNNNF1306
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 1674 for SCN5A.