Paralogue Annotation for SCN5A residue 171

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 171
Reference Amino Acid: E - Glutamate
Protein Domain: TM Domain 1


Paralogue Variants mapped to SCN5A residue 171

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1AE147KEpisodic ataxia 2High9 15483044
SCN2AE169GEpileptic encephalopathy, early onsetHigh9 23935176

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.



SCN5AH------D-PPPWT--KYVEYTFTA-IYTF>E<SLVKILARGFCLHAFTFLRDPWNWLDFSVI201
SCN1AS------N-PPDWT--KNVEYTFTG-IYTF>E<SLIKIIARGFCLEDFTFLRDPWNWLDFTVI198
SCN2AS------N-PPDWT--KNVEYTFTG-IYTF>E<SLIKILARGFCLEDFTFLRDPWNWLDFTVI199
SCN3AS------N-PPDWT--KNVEYTFTG-IYTF>E<SLIKILARGFCLEDFTFLRDPWNWLDFSVI198
SCN4AS------D-PPPWS--KNVEYTFTG-IYTF>E<SLIKILARGFCVDDFTFLRDPWNWLDFSVI201
SCN7AT------N-LPKWR--PVLENTLLG-IYTF>E<ILVKLFARGVWAGSFSFLGDPWNWLDFSVT188
SCN8AS------N-PPDWS--KNVEYTFTG-IYTF>E<SLVKIIARGFCIDGFTFLRDPWNWLDFSVI202
SCN9AN------N-PPDWT--KNVEYTFTG-IYTF>E<SLVKILARGFCVGEFTFLRDPWNWLDFVVI196
SCN10AT------D-LPE-----KIEYVFTV-IYTF>E<ALIKILARGFCLNEFTYLRDPWNWLDFSVI197
SCN11AGPA-K--NSNSNNT--DIAECVFTG-IYIF>E<ALIKILARGFILDEFSFLRDPWNWLDSIVI203
CACNA1AEQHLPDDDKTPMSERLDDTEPYFIG-IFCF>E<AGIKIIALGFAFHKGSYLRNGWNVMDFVVV177
CACNA1BEQHLPDGDKTPMSERLDDTEPYFIG-IFCF>E<AGIKIIALGFVFHKGSYLRNGWNVMDFVVV174
CACNA1CYIPFPEDDSNATNSNLERVEYLFLI-IFTV>E<AFLKVIAYGLLFHPNAYLRNGWNLLDFIIV203
CACNA1DYIPFPEDDSNSTNHNLEKVEYAFLI-IFTV>E<TFLKIIAYGLLLHPNAYVRNGWNLLDFVIV205
CACNA1EEQHLPEDDKTPMSRRLEKTEPYFIG-IFCF>E<AGIKIVALGFIFHKGSYLRNGWNVMDFIVV168
CACNA1FYIPFPEDDSNTANHNLEQVEYVFLV-IFTV>E<TVLKIVAYGLVLHPSAYIRNGWNLLDFIIV171
CACNA1GFRPCEDIACDSQRCRILQAFDDFIFAFFAV>E<MVVKMVALGI-FGKKCYLGDTWNRLDFFIV160
CACNA1HFRPCEDVECGSERCNILEAFDAFIFAFFAV>E<MVIKMVALGL-FGQKCYLGDTWNRLDFFIV179
CACNA1IYQPCDDMDCLSDRCKILQVFDDFIFIFFAM>E<MVLKMVALGI-FGKKCYLGDTWNRLDFFIV158
CACNA1SYLPMPEDDNNSLNLGLEKLEYFFLI-VFSI>E<AAMKIIAYGFLFHQDAYLRSGWNVLDFTIV130
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 171 for SCN5A.