Paralogue Annotation for SCN5A residue 38

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 38
Reference Amino Acid: T - Threonine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 38

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1CA34VSudden cardiac deathLow2 24981977

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.



SCN5AGTSSFRRFTRESLAAIEKRMAEK-QARGST>T<LQESRE-GLPEE--EAPRPQLDLQASKKLP65
SCN1AGPDSFNFFTRESLAAIERRIAEE-KAKNPK>P<D----K-KDDDE--NGPKPNSDLEAGKNLP62
SCN2AGPDSFRFFTRESLAAIEQRIAEE-KAKRPK>Q<E----RKDEDDE--NGPKPNSDLEAGKSLP63
SCN3AGPESFRLFTRESLAAIEKRAAEE-KAKKPK>K<E----Q-DNDDE--NKPKPNSDLEAGKNLP62
SCN4AGPECLRPFTRESLAAIEQRAVEE-EARLQR>N<K----Q-MEIEE--PERKPRSDLEAGKNLP65
SCN7AEPKGLVPFTKESFELIKQHIAKT------->-<H----N-EDHEE--EDLKPTPDLEVGKKLP51
SCN8AGPDSFKPFTPESLANIERRIAES-KLKKPP>K<ADGSHR-EDDED--SKPKPNSDLEAGKSLP66
SCN9AGPQSFVHFTKQSLALIEQRIAER-KSKEPK>E<E----K-KDDDE--EAPKPSSDLEAGKQLP60
SCN10AETNNFRRFTPESLVEIEKQIAAKQGT-KKA>R<E-KHRE-QKDQE--EKPRPQLDLKACNQLP64
SCN11ADERNFRPFTSDSLAAIEKRIAIQ-KEKKKS>K<-----D-QTGEV--PQPRPQLDLKASRKLP63
CACNA1A---------GGSGAAAGV------------>-<VVGSG-GGRGAG--GSRQGGQ--------P42
CACNA1B---------PGGGERA-------------->-<--RGG-GAGGAG--GPGPGGLQ-------P39
CACNA1C---------PR-PAHANMN--------A-N>A<AAGLA----PEH--IPTPGAALSWQAAIDA58
CACNA1D-----H--ANE-ANYARGT--------R-L>P<LSGEG----PTSQPNSSKQTVLSWQAAIDA59
CACNA1E------------GDGD-------------->-<-SD-Q-SRNRQG--TPVPA----------S33
CACNA1F---------PE-PSPAN------------->-<GAGPG----PEWGLCPGP----P-------33
CACNA1GESGQP-R-S---------F--------M-->R<LND------LSG--AGGRP-----------32
CACNA1HGPAALVGASPESPGAPGRE--------A-->E<RGS------ELG--VSPSE-----------52
CACNA1ISSSAAAPAA------------------E-->P<GVTTE----QPG--P--RS--P-------P32
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 38 for SCN5A.