Paralogue Annotation for SCN5A residue 734

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 734
Reference Amino Acid: M - Methionine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 734

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AM785TDravet syndrome C ?High9 21248271
SCN1AM785VDravet syndromeHigh9 26096185

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.



SCN5AMSIKQGVKLVVMDPFTDLTITMCIVLNTLF>M<ALEHYNMTSEFEEMLQVGNLVFTGIFTAEM764
SCN1ALKVKHVVNLVVMDPFVDLAITICIVLNTLF>M<AMEHYPMTDHFNNVLTVGNLVFTGIFTAEM815
SCN2ALKVKHLVNLVVMDPFVDLAITICIVLNTLF>M<AMEHYPMTEQFSSVLSVGNLVFTGIFTAEM806
SCN3ALKVKHLVNLIVMDPFVDLAITICIVLNTLF>M<AMEHYPMTEQFSSVLTVGNLVFTGIFTAEM807
SCN4ALKFKNIIHLIVMDPFVDLGITICIVLNTLF>M<AMEHYPMTEHFDNVLTVGNLVFTGIFTAEM625
SCN7ALKLKEFVHRIIMAPFTDLFLIICIILNVCF>L<TLEHYPMSKQTNTLLNIGNLVFIGIFTAEM552
SCN8AIKLKEIVNLIVMDPFVDLAITICIVLNTLF>M<AMEHHPMTPQFEHVLAVGNLVFTGIFTAEM800
SCN9AIKFKKCIYFIVMDPFVDLAITICIVLNTLF>M<AMEHHPMTEEFKNVLAIGNLVFTGIFAAEM780
SCN10AVKLKTILFGLVTDPFAELTITLCIVVNTIF>M<AMEHHGMSPTFEAMLQIGNIVFTIFFTAEM712
SCN11ALCVKKVLRTVMTDPFTELAITICIIINTVF>L<AMEHHKMEASFEKMLNIGNLVFTSIFIAEM624
CACNA1ARRMRFYIRRMVKTQAFYWTVLSLVALNTLC>V<AIVHYNQPEWLSDFLYYAEFIFLGLFMSEM534
CACNA1BKMFRFFIRRMVKAQSFYWVVLCVVALNTLC>V<AMVHYNQPRRLTTTLYFAEFVFLGLFLTEM530
CACNA1CRFCRRKCRAAVKSNVFYWLVIFLVFLNTLT>I<ASEHYNQPNWLTEVQDTANKALLALFTAEM571
CACNA1DRFNRRRCRAAVKSVTFYWLVIVLVFLNTLT>I<SSEHYNQPDWLTQIQDIANKVLLALFTCEM590
CACNA1ERLLRISIRHMVKSQVFYWIVLSLVALNTAC>V<AIVHHNQPQWLTHLLYYAEFLFLGLFLLEM523
CACNA1FRVLRARCRRAVKSNACYWAVLLLVFLNTLT>I<ASEHHGQPVWLTQIQEYANKVLLCLFTVEM576
CACNA1GRLICDTFRKIVDSKYFGRGIMIAILVNTLS>M<GIEYHEQPEELTNALEISNIVFTSLFALEM790
CACNA1HVTFSGKLRRIVDSKYFSRGIMMAILVNTLS>M<GVEYHEQPEELTNALEISNIVFTSMFALEM840
CACNA1IRETRAKLRGIVDSKYFNRGIMMAILVNTVS>M<GIEHHEQPEELTNILEICNVVFTSMFALEM687
CACNA1SRIFRWKCHDIVKSKVFYWLVILIVALNTLS>I<ASEHHNQPLWLTRLQDIANRVLLSLFTTEM479
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 734 for SCN5A.