Paralogue Annotation for SCN5A residue 739

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 739
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 739

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY790CGeneralized epilepsy with febrile seizures plusHigh9 12919402, 25576396
SCN1AY790FPanayiotopoulos syndromeHigh9 17679682

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.



SCN5AGVKLVVMDPFTDLTITMCIVLNTLFMALEH>Y<NMTSEFEEMLQVGNLVFTGIFTAEMTFKII769
SCN1AVVNLVVMDPFVDLAITICIVLNTLFMAMEH>Y<PMTDHFNNVLTVGNLVFTGIFTAEMFLKII820
SCN2ALVNLVVMDPFVDLAITICIVLNTLFMAMEH>Y<PMTEQFSSVLSVGNLVFTGIFTAEMFLKII811
SCN3ALVNLIVMDPFVDLAITICIVLNTLFMAMEH>Y<PMTEQFSSVLTVGNLVFTGIFTAEMVLKII812
SCN4AIIHLIVMDPFVDLGITICIVLNTLFMAMEH>Y<PMTEHFDNVLTVGNLVFTGIFTAEMVLKLI630
SCN7AFVHRIIMAPFTDLFLIICIILNVCFLTLEH>Y<PMSKQTNTLLNIGNLVFIGIFTAEMIFKII557
SCN8AIVNLIVMDPFVDLAITICIVLNTLFMAMEH>H<PMTPQFEHVLAVGNLVFTGIFTAEMFLKLI805
SCN9ACIYFIVMDPFVDLAITICIVLNTLFMAMEH>H<PMTEEFKNVLAIGNLVFTGIFAAEMVLKLI785
SCN10AILFGLVTDPFAELTITLCIVVNTIFMAMEH>H<GMSPTFEAMLQIGNIVFTIFFTAEMVFKII717
SCN11AVLRTVMTDPFTELAITICIIINTVFLAMEH>H<KMEASFEKMLNIGNLVFTSIFIAEMCLKII629
CACNA1AYIRRMVKTQAFYWTVLSLVALNTLCVAIVH>Y<NQPEWLSDFLYYAEFIFLGLFMSEMFIKMY539
CACNA1BFIRRMVKAQSFYWVVLCVVALNTLCVAMVH>Y<NQPRRLTTTLYFAEFVFLGLFLTEMSLKMY535
CACNA1CKCRAAVKSNVFYWLVIFLVFLNTLTIASEH>Y<NQPNWLTEVQDTANKALLALFTAEMLLKMY576
CACNA1DRCRAAVKSVTFYWLVIVLVFLNTLTISSEH>Y<NQPDWLTQIQDIANKVLLALFTCEMLVKMY595
CACNA1ESIRHMVKSQVFYWIVLSLVALNTACVAIVH>H<NQPQWLTHLLYYAEFLFLGLFLLEMSLKMY528
CACNA1FRCRRAVKSNACYWAVLLLVFLNTLTIASEH>H<GQPVWLTQIQEYANKVLLCLFTVEMLLKLY581
CACNA1GTFRKIVDSKYFGRGIMIAILVNTLSMGIEY>H<EQPEELTNALEISNIVFTSLFALEMLLKLL795
CACNA1HKLRRIVDSKYFSRGIMMAILVNTLSMGVEY>H<EQPEELTNALEISNIVFTSMFALEMLLKLL845
CACNA1IKLRGIVDSKYFNRGIMMAILVNTVSMGIEH>H<EQPEELTNILEICNVVFTSMFALEMILKLA692
CACNA1SKCHDIVKSKVFYWLVILIVALNTLSIASEH>H<NQPLWLTRLQDIANRVLLSLFTTEMLMKMY484
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 739 for SCN5A.