Paralogue Annotation for SCN5A residue 755

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 755
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 755

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HV831MEpilepsy, childhood absenceHigh9 12891677, 14729682

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.



SCN5AMCIVLNTLFMALEHYNMTSEFEEMLQVGNL>V<FTGIFTAEMTFKIIALDPYYYFQQGWNIFD785
SCN1AICIVLNTLFMAMEHYPMTDHFNNVLTVGNL>V<FTGIFTAEMFLKIIAMDPYYYFQEGWNIFD836
SCN2AICIVLNTLFMAMEHYPMTEQFSSVLSVGNL>V<FTGIFTAEMFLKIIAMDPYYYFQEGWNIFD827
SCN3AICIVLNTLFMAMEHYPMTEQFSSVLTVGNL>V<FTGIFTAEMVLKIIAMDPYYYFQEGWNIFD828
SCN4AICIVLNTLFMAMEHYPMTEHFDNVLTVGNL>V<FTGIFTAEMVLKLIAMDPYEYFQQGWNIFD646
SCN7AICIILNVCFLTLEHYPMSKQTNTLLNIGNL>V<FIGIFTAEMIFKIIAMHPYGYFQVGWNIFD573
SCN8AICIVLNTLFMAMEHHPMTPQFEHVLAVGNL>V<FTGIFTAEMFLKLIAMDPYYYFQEGWNIFD821
SCN9AICIVLNTLFMAMEHHPMTEEFKNVLAIGNL>V<FTGIFAAEMVLKLIAMDPYEYFQVGWNIFD801
SCN10ALCIVVNTIFMAMEHHGMSPTFEAMLQIGNI>V<FTIFFTAEMVFKIIAFDPYYYFQKKWNIFD733
SCN11AICIIINTVFLAMEHHKMEASFEKMLNIGNL>V<FTSIFIAEMCLKIIALDPYHYFRRGWNIFD645
CACNA1ASLVALNTLCVAIVHYNQPEWLSDFLYYAEF>I<FLGLFMSEMFIKMYGLGTRPYFHSSFNCFD555
CACNA1BCVVALNTLCVAMVHYNQPRRLTTTLYFAEF>V<FLGLFLTEMSLKMYGLGPRSYFRSSFNCFD551
CACNA1CFLVFLNTLTIASEHYNQPNWLTEVQDTANK>A<LLALFTAEMLLKMYSLGLQAYFVSLFNRFD592
CACNA1DVLVFLNTLTISSEHYNQPDWLTQIQDIANK>V<LLALFTCEMLVKMYSLGLQAYFVSLFNRFD611
CACNA1ESLVALNTACVAIVHHNQPQWLTHLLYYAEF>L<FLGLFLLEMSLKMYGMGPRLYFHSSFNCFD544
CACNA1FLLVFLNTLTIASEHHGQPVWLTQIQEYANK>V<LLCLFTVEMLLKLYGLGPSAYVSSFFNRFD597
CACNA1GIAILVNTLSMGIEYHEQPEELTNALEISNI>V<FTSLFALEMLLKLLVYGPFGYIKNPYNIFD811
CACNA1HMAILVNTLSMGVEYHEQPEELTNALEISNI>V<FTSMFALEMLLKLLACGPLGYIRNPYNIFD861
CACNA1IMAILVNTVSMGIEHHEQPEELTNILEICNV>V<FTSMFALEMILKLAAFGLFDYLRNPYNIFD708
CACNA1SLIVALNTLSIASEHHNQPLWLTRLQDIANR>V<LLSLFTTEMLMKMYGLGLRQYFMSIFNRFD500
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 755 for SCN5A.