Paralogue Annotation for SCN5A residue 183

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 183
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 183

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1HF161LEpilepsy, childhood absenceMedium9 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.



SCN5AWT--KYVEYTFTA-IYTFESLVKILARGFC>L<HAFTFLRDPWNWLDFSVIIMAYVSENIKLG213
SCN1AWT--KNVEYTFTG-IYTFESLIKIIARGFC>L<EDFTFLRDPWNWLDFTVITFAYVTEFVDLG210
SCN2AWT--KNVEYTFTG-IYTFESLIKILARGFC>L<EDFTFLRDPWNWLDFTVITFAYVTEFVDLG211
SCN3AWT--KNVEYTFTG-IYTFESLIKILARGFC>L<EDFTFLRDPWNWLDFSVIVMAYVTEFVDLG210
SCN4AWS--KNVEYTFTG-IYTFESLIKILARGFC>V<DDFTFLRDPWNWLDFSVIMMAYLTEFVDLG213
SCN7AWR--PVLENTLLG-IYTFEILVKLFARGVW>A<GSFSFLGDPWNWLDFSVTVFEVIIRYSPLD200
SCN8AWS--KNVEYTFTG-IYTFESLVKIIARGFC>I<DGFTFLRDPWNWLDFSVIMMAYITEFVNLG214
SCN9AWT--KNVEYTFTG-IYTFESLVKILARGFC>V<GEFTFLRDPWNWLDFVVIVFAYLTEFVNLG208
SCN10A-----KIEYVFTV-IYTFEALIKILARGFC>L<NEFTYLRDPWNWLDFSVITLAYVGTAIDLR209
SCN11ANT--DIAECVFTG-IYIFEALIKILARGFI>L<DEFSFLRDPWNWLDSIVIGIAIVSYIPGIT215
CACNA1ASERLDDTEPYFIG-IFCFEAGIKIIALGFA>F<HKGSYLRNGWNVMDFVVVLTGILATVGTEF189
CACNA1BSERLDDTEPYFIG-IFCFEAGIKIIALGFV>F<HKGSYLRNGWNVMDFVVVLTGILATAGTDF186
CACNA1CNSNLERVEYLFLI-IFTVEAFLKVIAYGLL>F<HPNAYLRNGWNLLDFIIVVVGLFSAILEQA215
CACNA1DNHNLEKVEYAFLI-IFTVETFLKIIAYGLL>L<HPNAYVRNGWNLLDFVIVIVGLFSVILEQL217
CACNA1ESRRLEKTEPYFIG-IFCFEAGIKIVALGFI>F<HKGSYLRNGWNVMDFIVVLSGILATAGTHF180
CACNA1FNHNLEQVEYVFLV-IFTVETVLKIVAYGLV>L<HPSAYIRNGWNLLDFIIVVVGLFSVLLEQG183
CACNA1GRCRILQAFDDFIFAFFAVEMVVKMVALGI->F<GKKCYLGDTWNRLDFFIVIAGMLEYSLDLQ172
CACNA1HRCNILEAFDAFIFAFFAVEMVIKMVALGL->F<GQKCYLGDTWNRLDFFIVVAGMMEYSLDGH191
CACNA1IRCKILQVFDDFIFIFFAMEMVLKMVALGI->F<GKKCYLGDTWNRLDFFIVMAGMVEYSLDLQ170
CACNA1SNLGLEKLEYFFLI-VFSIEAAMKIIAYGFL>F<HQDAYLRSGWNVLDFTIVFLGVFTVILEQV142
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 183 for SCN5A.