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

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AI739VFebrile seizures ?High9 19763161, 22539570, 21698661, 22826602, 24820863
SCN10AI671VBrugada syndromeHigh9 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.



SCN5ARYLIWECCPLWMSIKQGVKLVVMDPFTDLT>I<TMCIVLNTLFMALEHYNMTSEFEEMLQVGN753
SCN1AIFLIWDCSPYWLKVKHVVNLVVMDPFVDLA>I<TICIVLNTLFMAMEHYPMTDHFNNVLTVGN804
SCN2AMCLIWDCCKPWLKVKHLVNLVVMDPFVDLA>I<TICIVLNTLFMAMEHYPMTEQFSSVLSVGN795
SCN3AVFLIWDCCDAWLKVKHLVNLIVMDPFVDLA>I<TICIVLNTLFMAMEHYPMTEQFSSVLTVGN796
SCN4AKVLIWNCCAPWLKFKNIIHLIVMDPFVDLG>I<TICIVLNTLFMAMEHYPMTEHFDNVLTVGN614
SCN7ATFLIWNCSPCWLKLKEFVHRIIMAPFTDLF>L<IICIILNVCFLTLEHYPMSKQTNTLLNIGN541
SCN8ATFLIWECHPYWIKLKEIVNLIVMDPFVDLA>I<TICIVLNTLFMAMEHHPMTPQFEHVLAVGN789
SCN9AKFLIWNCSPYWIKFKKCIYFIVMDPFVDLA>I<TICIVLNTLFMAMEHHPMTEEFKNVLAIGN769
SCN10AKYLIWDCCPMWVKLKTILFGLVTDPFAELT>I<TLCIVVNTIFMAMEHHGMSPTFEAMLQIGN701
SCN11AKYLVWNCCPQWLCVKKVLRTVMTDPFTELA>I<TICIIINTVFLAMEHHKMEASFEKMLNIGN613
CACNA1ALENSTFFHKKERRMRFYIRRMVKTQAFYWT>V<LSLVALNTLCVAIVHYNQPEWLSDFLYYAE523
CACNA1BTESSSYFRRKEKMFRFFIRRMVKAQSFYWV>V<LCVVALNTLCVAMVHYNQPRRLTTTLYFAE519
CACNA1CSKFSRYWRRWNRFCRRKCRAAVKSNVFYWL>V<IFLVFLNTLTIASEHYNQPNWLTEVQDTAN560
CACNA1DSKLSRRWRRWNRFNRRRCRAAVKSVTFYWL>V<IVLVFLNTLTISSEHYNQPDWLTQIQDIAN579
CACNA1EVDGVSYFRHKERLLRISIRHMVKSQVFYWI>V<LSLVALNTACVAIVHHNQPQWLTHLLYYAE512
CACNA1FTRVCRRLRRANRVLRARCRRAVKSNACYWA>V<LLLVFLNTLTIASEHHGQPVWLTQIQEYAN565
CACNA1GDAEPSSVLAFWRLICDTFRKIVDSKYFGRG>I<MIAILVNTLSMGIEYHEQPEELTNALEISN779
CACNA1HGE-PGWMGRLWVTFSGKLRRIVDSKYFSRG>I<MMAILVNTLSMGVEYHEQPEELTNALEISN829
CACNA1IGA-VWLCGDVWRETRAKLRGIVDSKYFNRG>I<MMAILVNTVSMGIEHHEQPEELTNILEICN676
CACNA1SIQFIRHWRQWNRIFRWKCHDIVKSKVFYWL>V<ILIVALNTLSIASEHHNQPLWLTRLQDIAN468
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

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