Paralogue Annotation for SCN5A residue 169

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 169
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 169

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1CT171MSudden unexplained deathHigh9 25500949

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.



SCN5AAQH------D-PPPWT--KYVEYTFTA-IY>T<FESLVKILARGFCLHAFTFLRDPWNWLDFS199
SCN1ATMS------N-PPDWT--KNVEYTFTG-IY>T<FESLIKIIARGFCLEDFTFLRDPWNWLDFT196
SCN2ATMS------N-PPDWT--KNVEYTFTG-IY>T<FESLIKILARGFCLEDFTFLRDPWNWLDFT197
SCN3ATLS------N-PPDWT--KNVEYTFTG-IY>T<FESLIKILARGFCLEDFTFLRDPWNWLDFS196
SCN4ATMS------D-PPPWS--KNVEYTFTG-IY>T<FESLIKILARGFCVDDFTFLRDPWNWLDFS199
SCN7ASLT------N-LPKWR--PVLENTLLG-IY>T<FEILVKLFARGVWAGSFSFLGDPWNWLDFS186
SCN8ATFS------N-PPDWS--KNVEYTFTG-IY>T<FESLVKIIARGFCIDGFTFLRDPWNWLDFS200
SCN9ATMN------N-PPDWT--KNVEYTFTG-IY>T<FESLVKILARGFCVGEFTFLRDPWNWLDFV194
SCN10ATRT------D-LPE-----KIEYVFTV-IY>T<FEALIKILARGFCLNEFTYLRDPWNWLDFS195
SCN11AATGPA-K--NSNSNNT--DIAECVFTG-IY>I<FEALIKILARGFILDEFSFLRDPWNWLDSI201
CACNA1AALEQHLPDDDKTPMSERLDDTEPYFIG-IF>C<FEAGIKIIALGFAFHKGSYLRNGWNVMDFV175
CACNA1BALEQHLPDGDKTPMSERLDDTEPYFIG-IF>C<FEAGIKIIALGFVFHKGSYLRNGWNVMDFV172
CACNA1CAIYIPFPEDDSNATNSNLERVEYLFLI-IF>T<VEAFLKVIAYGLLFHPNAYLRNGWNLLDFI201
CACNA1DAIYIPFPEDDSNSTNHNLEKVEYAFLI-IF>T<VETFLKIIAYGLLLHPNAYVRNGWNLLDFV203
CACNA1EALEQHLPEDDKTPMSRRLEKTEPYFIG-IF>C<FEAGIKIVALGFIFHKGSYLRNGWNVMDFI166
CACNA1FGVYIPFPEDDSNTANHNLEQVEYVFLV-IF>T<VETVLKIVAYGLVLHPSAYIRNGWNLLDFI169
CACNA1GGMFRPCEDIACDSQRCRILQAFDDFIFAFF>A<VEMVVKMVALGI-FGKKCYLGDTWNRLDFF158
CACNA1HGMFRPCEDVECGSERCNILEAFDAFIFAFF>A<VEMVIKMVALGL-FGQKCYLGDTWNRLDFF177
CACNA1IGMYQPCDDMDCLSDRCKILQVFDDFIFIFF>A<MEMVLKMVALGI-FGKKCYLGDTWNRLDFF156
CACNA1SAVYLPMPEDDNNSLNLGLEKLEYFFLI-VF>S<IEAAMKIIAYGFLFHQDAYLRSGWNVLDFT128
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 169 for SCN5A.