Paralogue Annotation for SCN5A residue 186

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 186
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 186

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AG162VEpisodic ataxia 2Medium9 27066515

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.



SCN5A-KYVEYTFTA-IYTFESLVKILARGFCLHA>F<TFLRDPWNWLDFSVIIMAYVSENIKLG---213
SCN1A-KNVEYTFTG-IYTFESLIKIIARGFCLED>F<TFLRDPWNWLDFTVITFAYVTEFVDLG---210
SCN2A-KNVEYTFTG-IYTFESLIKILARGFCLED>F<TFLRDPWNWLDFTVITFAYVTEFVDLG---211
SCN3A-KNVEYTFTG-IYTFESLIKILARGFCLED>F<TFLRDPWNWLDFSVIVMAYVTEFVDLG---210
SCN4A-KNVEYTFTG-IYTFESLIKILARGFCVDD>F<TFLRDPWNWLDFSVIMMAYLTEFVDLG---213
SCN7A-PVLENTLLG-IYTFEILVKLFARGVWAGS>F<SFLGDPWNWLDFSVTVFEVIIRYSPLD---200
SCN8A-KNVEYTFTG-IYTFESLVKIIARGFCIDG>F<TFLRDPWNWLDFSVIMMAYITEFVNLG---214
SCN9A-KNVEYTFTG-IYTFESLVKILARGFCVGE>F<TFLRDPWNWLDFVVIVFAYLTEFVNLG---208
SCN10A--KIEYVFTV-IYTFEALIKILARGFCLNE>F<TYLRDPWNWLDFSVITLAYVGTAIDLR---209
SCN11A-DIAECVFTG-IYIFEALIKILARGFILDE>F<SFLRDPWNWLDSIVIGIAIVSYIPGIT---215
CACNA1ALDDTEPYFIG-IFCFEAGIKIIALGFAFHK>G<SYLRNGWNVMDFVVVLTGILATVGTEF---189
CACNA1BLDDTEPYFIG-IFCFEAGIKIIALGFVFHK>G<SYLRNGWNVMDFVVVLTGILATAGTDF---186
CACNA1CLERVEYLFLI-IFTVEAFLKVIAYGLLFHP>N<AYLRNGWNLLDFIIVVVGLFSAILEQATKA218
CACNA1DLEKVEYAFLI-IFTVETFLKIIAYGLLLHP>N<AYVRNGWNLLDFVIVIVGLFSVILEQLTKE220
CACNA1ELEKTEPYFIG-IFCFEAGIKIVALGFIFHK>G<SYLRNGWNVMDFIVVLSGILATAGTHFN--181
CACNA1FLEQVEYVFLV-IFTVETVLKIVAYGLVLHP>S<AYIRNGWNLLDFIIVVVGLFSVLLEQGPGR186
CACNA1GILQAFDDFIFAFFAVEMVVKMVALGI-FGK>K<CYLGDTWNRLDFFIVIAGMLEYSLDLQ---172
CACNA1HILEAFDAFIFAFFAVEMVIKMVALGL-FGQ>K<CYLGDTWNRLDFFIVVAGMMEYSLDGH---191
CACNA1IILQVFDDFIFIFFAMEMVLKMVALGI-FGK>K<CYLGDTWNRLDFFIVMAGMVEYSLDLQ---170
CACNA1SLEKLEYFFLI-VFSIEAAMKIIAYGFLFHQ>D<AYLRSGWNVLDFTIVFLGVFTVILEQVNVI145
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 186 for SCN5A.