Paralogue Annotation for SCN5A residue 181

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 181
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 181

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AF178SIntractable epilepsyHigh9 23195492

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.



SCN5APPWT--KYVEYTFTA-IYTFESLVKILARG>F<CLHAFTFLRDPWNWLDFSVIIMAYVSENIK211
SCN1APDWT--KNVEYTFTG-IYTFESLIKIIARG>F<CLEDFTFLRDPWNWLDFTVITFAYVTEFVD208
SCN2APDWT--KNVEYTFTG-IYTFESLIKILARG>F<CLEDFTFLRDPWNWLDFTVITFAYVTEFVD209
SCN3APDWT--KNVEYTFTG-IYTFESLIKILARG>F<CLEDFTFLRDPWNWLDFSVIVMAYVTEFVD208
SCN4APPWS--KNVEYTFTG-IYTFESLIKILARG>F<CVDDFTFLRDPWNWLDFSVIMMAYLTEFVD211
SCN7APKWR--PVLENTLLG-IYTFEILVKLFARG>V<WAGSFSFLGDPWNWLDFSVTVFEVIIRYSP198
SCN8APDWS--KNVEYTFTG-IYTFESLVKIIARG>F<CIDGFTFLRDPWNWLDFSVIMMAYITEFVN212
SCN9APDWT--KNVEYTFTG-IYTFESLVKILARG>F<CVGEFTFLRDPWNWLDFVVIVFAYLTEFVN206
SCN10APE-----KIEYVFTV-IYTFEALIKILARG>F<CLNEFTYLRDPWNWLDFSVITLAYVGTAID207
SCN11ASNNT--DIAECVFTG-IYIFEALIKILARG>F<ILDEFSFLRDPWNWLDSIVIGIAIVSYIPG213
CACNA1APMSERLDDTEPYFIG-IFCFEAGIKIIALG>F<AFHKGSYLRNGWNVMDFVVVLTGILATVGT187
CACNA1BPMSERLDDTEPYFIG-IFCFEAGIKIIALG>F<VFHKGSYLRNGWNVMDFVVVLTGILATAGT184
CACNA1CATNSNLERVEYLFLI-IFTVEAFLKVIAYG>L<LFHPNAYLRNGWNLLDFIIVVVGLFSAILE213
CACNA1DSTNHNLEKVEYAFLI-IFTVETFLKIIAYG>L<LLHPNAYVRNGWNLLDFVIVIVGLFSVILE215
CACNA1EPMSRRLEKTEPYFIG-IFCFEAGIKIVALG>F<IFHKGSYLRNGWNVMDFIVVLSGILATAGT178
CACNA1FTANHNLEQVEYVFLV-IFTVETVLKIVAYG>L<VLHPSAYIRNGWNLLDFIIVVVGLFSVLLE181
CACNA1GSQRCRILQAFDDFIFAFFAVEMVVKMVALG>I<-FGKKCYLGDTWNRLDFFIVIAGMLEYSLD170
CACNA1HSERCNILEAFDAFIFAFFAVEMVIKMVALG>L<-FGQKCYLGDTWNRLDFFIVVAGMMEYSLD189
CACNA1ISDRCKILQVFDDFIFIFFAMEMVLKMVALG>I<-FGKKCYLGDTWNRLDFFIVMAGMVEYSLD168
CACNA1SSLNLGLEKLEYFFLI-VFSIEAAMKIIAYG>F<LFHQDAYLRSGWNVLDFTIVFLGVFTVILE140
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 181 for SCN5A.