Paralogue Annotation for SCN5A residue 722

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 722
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 722

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN11AA582TPainful peripheral neuropathyMedium9 24776970

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.



SCN5AQRYLIWECCPLWMSIKQGVKLVVMDPFTDL>T<ITMCIVLNTLFMALEHYNMTSEFEEMLQVG752
SCN1ANIFLIWDCSPYWLKVKHVVNLVVMDPFVDL>A<ITICIVLNTLFMAMEHYPMTDHFNNVLTVG803
SCN2ANMCLIWDCCKPWLKVKHLVNLVVMDPFVDL>A<ITICIVLNTLFMAMEHYPMTEQFSSVLSVG794
SCN3ANVFLIWDCCDAWLKVKHLVNLIVMDPFVDL>A<ITICIVLNTLFMAMEHYPMTEQFSSVLTVG795
SCN4AHKVLIWNCCAPWLKFKNIIHLIVMDPFVDL>G<ITICIVLNTLFMAMEHYPMTEHFDNVLTVG613
SCN7AKTFLIWNCSPCWLKLKEFVHRIIMAPFTDL>F<LIICIILNVCFLTLEHYPMSKQTNTLLNIG540
SCN8ANTFLIWECHPYWIKLKEIVNLIVMDPFVDL>A<ITICIVLNTLFMAMEHHPMTPQFEHVLAVG788
SCN9AHKFLIWNCSPYWIKFKKCIYFIVMDPFVDL>A<ITICIVLNTLFMAMEHHPMTEEFKNVLAIG768
SCN10AQKYLIWDCCPMWVKLKTILFGLVTDPFAEL>T<ITLCIVVNTIFMAMEHHGMSPTFEAMLQIG700
SCN11ASKYLVWNCCPQWLCVKKVLRTVMTDPFTEL>A<ITICIIINTVFLAMEHHKMEASFEKMLNIG612
CACNA1AKLENSTFFHKKERRMRFYIRRMVKTQAFYW>T<VLSLVALNTLCVAIVHYNQPEWLSDFLYYA522
CACNA1BKTESSSYFRRKEKMFRFFIRRMVKAQSFYW>V<VLCVVALNTLCVAMVHYNQPRRLTTTLYFA518
CACNA1CKSKFSRYWRRWNRFCRRKCRAAVKSNVFYW>L<VIFLVFLNTLTIASEHYNQPNWLTEVQDTA559
CACNA1DKSKLSRRWRRWNRFNRRRCRAAVKSVTFYW>L<VIVLVFLNTLTISSEHYNQPDWLTQIQDIA578
CACNA1EKVDGVSYFRHKERLLRISIRHMVKSQVFYW>I<VLSLVALNTACVAIVHHNQPQWLTHLLYYA511
CACNA1FKTRVCRRLRRANRVLRARCRRAVKSNACYW>A<VLLLVFLNTLTIASEHHGQPVWLTQIQEYA564
CACNA1GPDAEPSSVLAFWRLICDTFRKIVDSKYFGR>G<IMIAILVNTLSMGIEYHEQPEELTNALEIS778
CACNA1HPGE-PGWMGRLWVTFSGKLRRIVDSKYFSR>G<IMMAILVNTLSMGVEYHEQPEELTNALEIS828
CACNA1IDGA-VWLCGDVWRETRAKLRGIVDSKYFNR>G<IMMAILVNTVSMGIEHHEQPEELTNILEIC675
CACNA1S-IQFIRHWRQWNRIFRWKCHDIVKSKVFYW>L<VILIVALNTLSIASEHHNQPLWLTRLQDIA467
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 722 for SCN5A.