Paralogue Annotation for SCN5A residue 740

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 740
Reference Amino Acid: N - Asparagine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 740

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1C	N547S	Brugada syndrome (shorter-than-normal QT interval)	High	9	23575362

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.

SCN5A	VKLVVMDPFTDLTITMCIVLNTLFMALEHY>N<MTSEFEEMLQVGNLVFTGIFTAEMTFKIIA	770
SCN1A	VNLVVMDPFVDLAITICIVLNTLFMAMEHY>P<MTDHFNNVLTVGNLVFTGIFTAEMFLKIIA	821
SCN2A	VNLVVMDPFVDLAITICIVLNTLFMAMEHY>P<MTEQFSSVLSVGNLVFTGIFTAEMFLKIIA	812
SCN3A	VNLIVMDPFVDLAITICIVLNTLFMAMEHY>P<MTEQFSSVLTVGNLVFTGIFTAEMVLKIIA	813
SCN4A	IHLIVMDPFVDLGITICIVLNTLFMAMEHY>P<MTEHFDNVLTVGNLVFTGIFTAEMVLKLIA	631
SCN7A	VHRIIMAPFTDLFLIICIILNVCFLTLEHY>P<MSKQTNTLLNIGNLVFIGIFTAEMIFKIIA	558
SCN8A	VNLIVMDPFVDLAITICIVLNTLFMAMEHH>P<MTPQFEHVLAVGNLVFTGIFTAEMFLKLIA	806
SCN9A	IYFIVMDPFVDLAITICIVLNTLFMAMEHH>P<MTEEFKNVLAIGNLVFTGIFAAEMVLKLIA	786
SCN10A	LFGLVTDPFAELTITLCIVVNTIFMAMEHH>G<MSPTFEAMLQIGNIVFTIFFTAEMVFKIIA	718
SCN11A	LRTVMTDPFTELAITICIIINTVFLAMEHH>K<MEASFEKMLNIGNLVFTSIFIAEMCLKIIA	630
CACNA1A	IRRMVKTQAFYWTVLSLVALNTLCVAIVHY>N<QPEWLSDFLYYAEFIFLGLFMSEMFIKMYG	540
CACNA1B	IRRMVKAQSFYWVVLCVVALNTLCVAMVHY>N<QPRRLTTTLYFAEFVFLGLFLTEMSLKMYG	536
CACNA1C	CRAAVKSNVFYWLVIFLVFLNTLTIASEHY>N<QPNWLTEVQDTANKALLALFTAEMLLKMYS	577
CACNA1D	CRAAVKSVTFYWLVIVLVFLNTLTISSEHY>N<QPDWLTQIQDIANKVLLALFTCEMLVKMYS	596
CACNA1E	IRHMVKSQVFYWIVLSLVALNTACVAIVHH>N<QPQWLTHLLYYAEFLFLGLFLLEMSLKMYG	529
CACNA1F	CRRAVKSNACYWAVLLLVFLNTLTIASEHH>G<QPVWLTQIQEYANKVLLCLFTVEMLLKLYG	582
CACNA1G	FRKIVDSKYFGRGIMIAILVNTLSMGIEYH>E<QPEELTNALEISNIVFTSLFALEMLLKLLV	796
CACNA1H	LRRIVDSKYFSRGIMMAILVNTLSMGVEYH>E<QPEELTNALEISNIVFTSMFALEMLLKLLA	846
CACNA1I	LRGIVDSKYFNRGIMMAILVNTVSMGIEHH>E<QPEELTNILEICNVVFTSMFALEMILKLAA	693
CACNA1S	CHDIVKSKVFYWLVILIVALNTLSIASEHH>N<QPLWLTRLQDIANRVLLSLFTTEMLMKMYG	485
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 740 for SCN5A.