Paralogue Annotation for SCN5A residue 11

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 11
Reference Amino Acid: S - Serine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 11

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN9AQ10RErythermalgia, primaryMedium2 19369487
SCN9AQ10KErythermalgia, primaryMedium2 23129781

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----MAN-F-L-------------LPRGT>S<SFRRFTRESLAAIEKRMAEK-QARGSTTLQ40
SCN1A---MEQT-V-L-------------VPPGP>D<SFNFFTRESLAAIERRIAEE-KAKNPKPD-40
SCN2A---MAQS-V-L-------------VPPGP>D<SFRFFTRESLAAIEQRIAEE-KAKRPKQE-40
SCN3A---MAQA-L-L-------------VPPGP>E<SFRLFTRESLAAIEKRAAEE-KAKKPKKE-40
SCN4AMARPSLC-T-L-------------VPLGP>E<CLRPFTRESLAAIEQRAVEE-EARLQRNK-43
SCN7A--------M-L-------------ASPEP>K<GLVPFTKESFELIKQHIAKT--------H-29
SCN8A---MAAR-L-L-------------APPGP>D<SFKPFTPESLANIERRIAES-KLKKPPKAD41
SCN9A-----MA-M-L-------------PPPGP>Q<SFVHFTKQSLALIEQRIAER-KSKEPKEE-38
SCN10A----MEF-P-I-------------GSLET>N<NFRRFTPESLVEIEKQIAAKQGT-KKARE-39
SCN11A-MDDRCY-P-V-------------IFPDE>R<NFRPFTSDSLAAIEKRIAIQ-KEKKKSK--41
CACNA1AMARF-----GD----EM-PARYGG----->-<------GGSGAAAGV-------------VV25
CACNA1BMVRF-----GD----EL-GGRYGG----->-<------PGGGERA-----------------21
CACNA1CMVNENTR--MYIPEENHQGSNYGS----->-<------PR-PAHANMN--------A-NAAA36
CACNA1DMMMM-----MMMKKMQHQRQQQAD----->-<--H--ANE-ANYARGT--------R-LPLS35
CACNA1EMARF-----GE----AV-VARPGS----->-<---------GDGD----------------S19
CACNA1FMSES-----E----GG----KDTT----->-<------PE-PSPAN--------------GA20
CACNA1GMDEE-ED--GA-------------GAEES>G<QP-R-S---------F--------M--RLN23
CACNA1HMTEG-ARAADE--V-RV-P--LGAPPPGP>A<ALVGASPESPGAPGRE--------A--ERG43
CACNA1IMAE------SA-------------SPPSS>S<AAAPAA------------------E--PGV21
CACNA1SMEP-------------------------->-<------------------------------3
cons                             > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 11 for SCN5A.