Paralogue Annotation for SCN5A residue 45

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 45
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 45

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
CACNA1CA39VBrugada syndrome (shorter-than-normal QT interval)Low2 17224476, 22385640, 24775099

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.



SCN5ATRESLAAIEKRMAEK-QARGSTTLQESRE->G<LPEE--EAPRPQLDLQASKKLPDLYGNPPQ73
SCN1ATRESLAAIERRIAEE-KAKNPKPD----K->K<DDDE--NGPKPNSDLEAGKNLPFIYGDIPP70
SCN2ATRESLAAIEQRIAEE-KAKRPKQE----RK>D<EDDE--NGPKPNSDLEAGKSLPFIYGDIPP71
SCN3ATRESLAAIEKRAAEE-KAKKPKKE----Q->D<NDDE--NKPKPNSDLEAGKNLPFIYGDIPP70
SCN4ATRESLAAIEQRAVEE-EARLQRNK----Q->M<EIEE--PERKPRSDLEAGKNLPMIYGDPPP73
SCN7ATKESFELIKQHIAKT--------H----N->E<DHEE--EDLKPTPDLEVGKKLPFIYGNLSQ59
SCN8ATPESLANIERRIAES-KLKKPPKADGSHR->E<DDED--SKPKPNSDLEAGKSLPFIYGDIPQ74
SCN9ATKQSLALIEQRIAER-KSKEPKEE----K->K<DDDE--EAPKPSSDLEAGKQLPFIYGDIPP68
SCN10ATPESLVEIEKQIAAKQGT-KKARE-KHRE->Q<KDQE--EKPRPQLDLKACNQLPKFYGELPA72
SCN11ATSDSLAAIEKRIAIQ-KEKKKSK-----D->Q<TGEV--PQPRPQLDLKASRKLPKLYGDIPR71
CACNA1A-GGSGAAAGV-------------VVGSG-G>G<RGAG--GSRQGGQ--------PGA------44
CACNA1B-PGGGERA-----------------RGG-G>A<GGAG--GPGPGGLQ-------PGQ------41
CACNA1C-PR-PAHANMN--------A-NAAAGLA--><-PEH--IPTPGAALSWQAAIDAARQAKLMG66
CACNA1DANE-ANYARGT--------R-LPLSGEG-->-<-PTSQPNSSKQTVLSWQAAIDAARQAKAAQ67
CACNA1E----GDGD----------------SD-Q-S>R<NRQG--TPVPA----------SGQ------35
CACNA1F-PE-PSPAN--------------GAGPG-->-<-PEWGLCPGP----P-------AV------35
CACNA1GS---------F--------M--RLND---->-<-LSG--AGGRP-----------G-------33
CACNA1HSPESPGAPGRE--------A--ERGS---->-<-ELG--VSPSE-----------S-------53
CACNA1IA------------------E--PGVTTE-->-<-QPG--P--RS--P-------PS-------33
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 45 for SCN5A.