Paralogue Annotation for SCN5A residue 14

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 14
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 14

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN10AR14LBrugada syndromeMedium3 24998131, 24998131, 25691538, 25691686

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-------------LPRGTSSF>R<RFTRESLAAIEKRMAEK-QARGSTTLQESR43
SCN1A-MEQT-V-L-------------VPPGPDSF>N<FFTRESLAAIERRIAEE-KAKNPKPD----40
SCN2A-MAQS-V-L-------------VPPGPDSF>R<FFTRESLAAIEQRIAEE-KAKRPKQE----40
SCN3A-MAQA-L-L-------------VPPGPESF>R<LFTRESLAAIEKRAAEE-KAKKPKKE----40
SCN4ARPSLC-T-L-------------VPLGPECL>R<PFTRESLAAIEQRAVEE-EARLQRNK----43
SCN7A------M-L-------------ASPEPKGL>V<PFTKESFELIKQHIAKT--------H----29
SCN8A-MAAR-L-L-------------APPGPDSF>K<PFTPESLANIERRIAES-KLKKPPKADGSH44
SCN9A---MA-M-L-------------PPPGPQSF>V<HFTKQSLALIEQRIAER-KSKEPKEE----38
SCN10A--MEF-P-I-------------GSLETNNF>R<RFTPESLVEIEKQIAAKQGT-KKARE-KHR42
SCN11ADDRCY-P-V-------------IFPDERNF>R<PFTSDSLAAIEKRIAIQ-KEKKKSK-----41
CACNA1ARF-----GD----EM-PARYGG-------->-<---GGSGAAAGV-------------VVGSG28
CACNA1BRF-----GD----EL-GGRYGG-------->-<---PGGGERA-----------------RGG24
CACNA1CNENTR--MYIPEENHQGSNYGS-------->-<---PR-PAHANMN--------A-NAAAGLA39
CACNA1DMM-----MMMKKMQHQRQQQAD-------->H<--ANE-ANYARGT--------R-LPLSGEG38
CACNA1ERF-----GE----AV-VARPGS-------->-<------GDGD----------------SD-Q21
CACNA1FES-----E----GG----KDTT-------->-<---PE-PSPAN--------------GAGPG23
CACNA1GEE-ED--GA-------------GAEESGQP>-<R-S---------F--------M--RLND--24
CACNA1HEG-ARAADE--V-RV-P--LGAPPPGPAAL>V<GASPESPGAPGRE--------A--ERGS--44
CACNA1IE------SA-------------SPPSSSAA>A<PAA------------------E--PGVTTE24
CACNA1SP----------------------------->-<------------------------------3
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R14Sc.40C>A Putative BenignSIFT:
Polyphen: