Paralogue Annotation for SCN5A residue 221

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 221
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 221

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF218LGeneralised epilepsy with febrile seizures plus 2High9 19339291, 21719429
SCN9AF216SErythermalgia, primaryHigh9 15955112, 16988069, 23152140

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.



SCN5AENIKLG-----------------NLSALRT>F<RVLRALKTISVIPGLKTIVGALIQSVKKLA251
SCN1AEFVDLG-----------------NVSALRT>F<RVLRALKTISVIPGLKTIVGALIQSVKKLS248
SCN2AEFVDLG-----------------NVSALRT>F<RVLRALKTISVIPGLKTIVGALIQSVKKLS249
SCN3AEFVDLG-----------------NVSALRT>F<RVLRALKTISVIPGLKTIVGALIQSVKKLS248
SCN4AEFVDLG-----------------NISALRT>F<RVLRALKTITVIPGLKTIVGALIQSVKKLS251
SCN7ARYSPLD-----------------FIPTLQT>A<RTLRILKIIPLNQGLKSLVGVLIHCLKQLI238
SCN8AEFVNLG-----------------NVSALRT>F<RVLRALKTISVIPGLKTIVGALIQSVKKLS252
SCN9AEFVNLG-----------------NVSALRT>F<RVLRALKTISVIPGLKTIVGALIQSVKKLS246
SCN10ATAIDLR-----------------GISGLRT>F<RVLRALKTVSVIPGLKVIVGALIHSVKKLA247
SCN11AYIPGIT----------------IKLLPLRT>F<RVFRALKAISVVSRLKVIVGALLRSVKKLV254
CACNA1ATVGTEF-----------------DLRTLRA>V<RVLRPLKLVSGIPSLQVVLKSIMKAMIPLL227
CACNA1BTAGTDF-----------------DLRTLRA>V<RVLRPLKLVSGIPSLQVVLKSIMKAMVPLL224
CACNA1CAILEQATKA-DGANALGGKGAGFDVKALRA>F<RVLRPLRLVSGVPSLQVVLNSIIKAMVPLL269
CACNA1DVILEQLTKETEGGNHSSGKSGGFDVKALRA>F<RVLRPLRLVSGVPSLQVVLNSIIKAMVPLL272
CACNA1ETAGTHFN-------------THVDLRTLRA>V<RVLRPLKLVSGIPSLQIVLKSIMKAMVPLL222
CACNA1FVLLEQGPGRPGDAPHTGGKPGGFDVKALRA>F<RVLRPLRLVSGVPSLHIVLNSIMKALVPLL238
CACNA1GYSLDLQ---------------NVSFSAVRT>V<RVLRPLRAINRVPSMRILVTLLLDTLPMLG212
CACNA1HYSLDGH---------------NVSLSAIRT>V<RVLRPLRAINRVPSMRILVTLLLDTLPMLG231
CACNA1IYSLDLQ---------------NINLSAIRT>V<RVLRPLKAINRVPSMRILVNLLLDTLPMLG210
CACNA1SVILEQVNVIQSHTAPMSSKGAGLDVKALRA>F<RVLRPLRLVSGVPSLQVVLNSIFKAMLPLF197
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 221 for SCN5A.