Paralogue Annotation for SCN5A residue 723

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 723
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 723

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	I739V	Febrile seizures ?	High	9	19763161, 22539570, 21698661, 22826602, 24820863
SCN10A	I671V	Brugada syndrome	High	9	25691538, 25691538

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	RYLIWECCPLWMSIKQGVKLVVMDPFTDLT>I<TMCIVLNTLFMALEHYNMTSEFEEMLQVGN	753
SCN1A	IFLIWDCSPYWLKVKHVVNLVVMDPFVDLA>I<TICIVLNTLFMAMEHYPMTDHFNNVLTVGN	804
SCN2A	MCLIWDCCKPWLKVKHLVNLVVMDPFVDLA>I<TICIVLNTLFMAMEHYPMTEQFSSVLSVGN	795
SCN3A	VFLIWDCCDAWLKVKHLVNLIVMDPFVDLA>I<TICIVLNTLFMAMEHYPMTEQFSSVLTVGN	796
SCN4A	KVLIWNCCAPWLKFKNIIHLIVMDPFVDLG>I<TICIVLNTLFMAMEHYPMTEHFDNVLTVGN	614
SCN7A	TFLIWNCSPCWLKLKEFVHRIIMAPFTDLF>L<IICIILNVCFLTLEHYPMSKQTNTLLNIGN	541
SCN8A	TFLIWECHPYWIKLKEIVNLIVMDPFVDLA>I<TICIVLNTLFMAMEHHPMTPQFEHVLAVGN	789
SCN9A	KFLIWNCSPYWIKFKKCIYFIVMDPFVDLA>I<TICIVLNTLFMAMEHHPMTEEFKNVLAIGN	769
SCN10A	KYLIWDCCPMWVKLKTILFGLVTDPFAELT>I<TLCIVVNTIFMAMEHHGMSPTFEAMLQIGN	701
SCN11A	KYLVWNCCPQWLCVKKVLRTVMTDPFTELA>I<TICIIINTVFLAMEHHKMEASFEKMLNIGN	613
CACNA1A	LENSTFFHKKERRMRFYIRRMVKTQAFYWT>V<LSLVALNTLCVAIVHYNQPEWLSDFLYYAE	523
CACNA1B	TESSSYFRRKEKMFRFFIRRMVKAQSFYWV>V<LCVVALNTLCVAMVHYNQPRRLTTTLYFAE	519
CACNA1C	SKFSRYWRRWNRFCRRKCRAAVKSNVFYWL>V<IFLVFLNTLTIASEHYNQPNWLTEVQDTAN	560
CACNA1D	SKLSRRWRRWNRFNRRRCRAAVKSVTFYWL>V<IVLVFLNTLTISSEHYNQPDWLTQIQDIAN	579
CACNA1E	VDGVSYFRHKERLLRISIRHMVKSQVFYWI>V<LSLVALNTACVAIVHHNQPQWLTHLLYYAE	512
CACNA1F	TRVCRRLRRANRVLRARCRRAVKSNACYWA>V<LLLVFLNTLTIASEHHGQPVWLTQIQEYAN	565
CACNA1G	DAEPSSVLAFWRLICDTFRKIVDSKYFGRG>I<MIAILVNTLSMGIEYHEQPEELTNALEISN	779
CACNA1H	GE-PGWMGRLWVTFSGKLRRIVDSKYFSRG>I<MMAILVNTLSMGVEYHEQPEELTNALEISN	829
CACNA1I	GA-VWLCGDVWRETRAKLRGIVDSKYFNRG>I<MMAILVNTVSMGIEHHEQPEELTNILEICN	676
CACNA1S	IQFIRHWRQWNRIFRWKCHDIVKSKVFYWL>V<ILIVALNTLSIASEHHNQPLWLTRLQDIAN	468
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 723 for SCN5A.