Paralogue Annotation for SCN5A residue 23

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 23
Reference Amino Acid: A - Alanine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 23

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AA24TDravet syndromeMedium3 24168886

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-------------LPRGTSSFRRFTRESLA>A<IEKRMAEK-QARGSTTLQESRE-GLPEE--49
SCN1A-------------VPPGPDSFNFFTRESLA>A<IERRIAEE-KAKNPKPD----K-KDDDE--46
SCN2A-------------VPPGPDSFRFFTRESLA>A<IEQRIAEE-KAKRPKQE----RKDEDDE--47
SCN3A-------------VPPGPESFRLFTRESLA>A<IEKRAAEE-KAKKPKKE----Q-DNDDE--46
SCN4A-------------VPLGPECLRPFTRESLA>A<IEQRAVEE-EARLQRNK----Q-MEIEE--49
SCN7A-------------ASPEPKGLVPFTKESFE>L<IKQHIAKT--------H----N-EDHEE--35
SCN8A-------------APPGPDSFKPFTPESLA>N<IERRIAES-KLKKPPKADGSHR-EDDED--50
SCN9A-------------PPPGPQSFVHFTKQSLA>L<IEQRIAER-KSKEPKEE----K-KDDDE--44
SCN10A-------------GSLETNNFRRFTPESLV>E<IEKQIAAKQGT-KKARE-KHRE-QKDQE--48
SCN11A-------------IFPDERNFRPFTSDSLA>A<IEKRIAIQ-KEKKKSK-----D-QTGEV--47
CACNA1A----EM-PARYGG------------GGSGA>A<AGV-------------VVGSG-GGRGAG--34
CACNA1B----EL-GGRYGG------------PGGGE>R<A-----------------RGG-GAGGAG--30
CACNA1CIPEENHQGSNYGS------------PR-PA>H<ANMN--------A-NAAAGLA----PEH--42
CACNA1DMKKMQHQRQQQAD--------H--ANE-AN>Y<ARGT--------R-LPLSGEG----PTSQP43
CACNA1E----AV-VARPGS---------------GD>G<D----------------SD-Q-SRNRQG--27
CACNA1F---GG----KDTT------------PE-PS>P<AN--------------GAGPG----PEWGL28
CACNA1G-------------GAEESGQP-R-S----->-<---F--------M--RLND------LSG--27
CACNA1H--V-RV-P--LGAPPPGPAALVGASPESPG>A<PGRE--------A--ERGS------ELG--47
CACNA1I-------------SPPSSSAAAPAA----->-<------------E--PGVTTE----QPG--27
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A23Sc.67G>T Putative BenignSIFT:
Polyphen: