Paralogue Annotation for SCN5A residue 174

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 174
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 174

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AI171KMyoclonic epilepsy of infancyMedium9 17347258
SCN1AI171RDravet syndromeMedium9 18930999
SCN2AI172VAcute encephalopathy with biphasic seizures & lateMedium9 26311622

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----D-PPPWT--KYVEYTFTA-IYTFESL>V<KILARGFCLHAFTFLRDPWNWLDFSVIIMA204
SCN1A----N-PPDWT--KNVEYTFTG-IYTFESL>I<KIIARGFCLEDFTFLRDPWNWLDFTVITFA201
SCN2A----N-PPDWT--KNVEYTFTG-IYTFESL>I<KILARGFCLEDFTFLRDPWNWLDFTVITFA202
SCN3A----N-PPDWT--KNVEYTFTG-IYTFESL>I<KILARGFCLEDFTFLRDPWNWLDFSVIVMA201
SCN4A----D-PPPWS--KNVEYTFTG-IYTFESL>I<KILARGFCVDDFTFLRDPWNWLDFSVIMMA204
SCN7A----N-LPKWR--PVLENTLLG-IYTFEIL>V<KLFARGVWAGSFSFLGDPWNWLDFSVTVFE191
SCN8A----N-PPDWS--KNVEYTFTG-IYTFESL>V<KIIARGFCIDGFTFLRDPWNWLDFSVIMMA205
SCN9A----N-PPDWT--KNVEYTFTG-IYTFESL>V<KILARGFCVGEFTFLRDPWNWLDFVVIVFA199
SCN10A----D-LPE-----KIEYVFTV-IYTFEAL>I<KILARGFCLNEFTYLRDPWNWLDFSVITLA200
SCN11A-K--NSNSNNT--DIAECVFTG-IYIFEAL>I<KILARGFILDEFSFLRDPWNWLDSIVIGIA206
CACNA1ALPDDDKTPMSERLDDTEPYFIG-IFCFEAG>I<KIIALGFAFHKGSYLRNGWNVMDFVVVLTG180
CACNA1BLPDGDKTPMSERLDDTEPYFIG-IFCFEAG>I<KIIALGFVFHKGSYLRNGWNVMDFVVVLTG177
CACNA1CFPEDDSNATNSNLERVEYLFLI-IFTVEAF>L<KVIAYGLLFHPNAYLRNGWNLLDFIIVVVG206
CACNA1DFPEDDSNSTNHNLEKVEYAFLI-IFTVETF>L<KIIAYGLLLHPNAYVRNGWNLLDFVIVIVG208
CACNA1ELPEDDKTPMSRRLEKTEPYFIG-IFCFEAG>I<KIVALGFIFHKGSYLRNGWNVMDFIVVLSG171
CACNA1FFPEDDSNTANHNLEQVEYVFLV-IFTVETV>L<KIVAYGLVLHPSAYIRNGWNLLDFIIVVVG174
CACNA1GCEDIACDSQRCRILQAFDDFIFAFFAVEMV>V<KMVALGI-FGKKCYLGDTWNRLDFFIVIAG163
CACNA1HCEDVECGSERCNILEAFDAFIFAFFAVEMV>I<KMVALGL-FGQKCYLGDTWNRLDFFIVVAG182
CACNA1ICDDMDCLSDRCKILQVFDDFIFIFFAMEMV>L<KMVALGI-FGKKCYLGDTWNRLDFFIVMAG161
CACNA1SMPEDDNNSLNLGLEKLEYFFLI-VFSIEAA>M<KIIAYGFLFHQDAYLRSGWNVLDFTIVFLG133
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V174Ic.520G>A Putative BenignSIFT:
Polyphen: