Paralogue Annotation for SCN5A residue 8

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 8
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 8

No paralogue variants have been mapped to residue 8 for SCN5A.



SCN5A----MAN-F-L-------------LP>R<GTSSFRRFTRESLAAIEKRMAEK-QARGST37
SCN1A---MEQT-V-L-------------VP>P<GPDSFNFFTRESLAAIERRIAEE-KAKNPK38
SCN2A---MAQS-V-L-------------VP>P<GPDSFRFFTRESLAAIEQRIAEE-KAKRPK38
SCN3A---MAQA-L-L-------------VP>P<GPESFRLFTRESLAAIEKRAAEE-KAKKPK38
SCN4AMARPSLC-T-L-------------VP>L<GPECLRPFTRESLAAIEQRAVEE-EARLQR41
SCN7A--------M-L-------------AS>P<EPKGLVPFTKESFELIKQHIAKT-------28
SCN8A---MAAR-L-L-------------AP>P<GPDSFKPFTPESLANIERRIAES-KLKKPP38
SCN9A-----MA-M-L-------------PP>P<GPQSFVHFTKQSLALIEQRIAER-KSKEPK36
SCN10A----MEF-P-I-------------GS>L<ETNNFRRFTPESLVEIEKQIAAKQGT-KKA37
SCN11A-MDDRCY-P-V-------------IF>P<DERNFRPFTSDSLAAIEKRIAIQ-KEKKKS40
CACNA1AMARF-----GD----EM-PARYGG-->-<---------GGSGAAAGV------------23
CACNA1BMVRF-----GD----EL-GGRYGG-->-<---------PGGGERA--------------21
CACNA1CMVNENTR--MYIPEENHQGSNYGS-->-<---------PR-PAHANMN--------A-N33
CACNA1DMMMM-----MMMKKMQHQRQQQAD-->-<-----H--ANE-ANYARGT--------R-L32
CACNA1EMARF-----GE----AV-VARPGS-->-<------------GDGD--------------18
CACNA1FMSES-----E----GG----KDTT-->-<---------PE-PSPAN-------------18
CACNA1GMDEE-ED--GA-------------GA>E<ESGQP-R-S---------F--------M--20
CACNA1HMTEG-ARAADE--V-RV-P--LGAPP>P<GPAALVGASPESPGAPGRE--------A--40
CACNA1IMAE------SA-------------SP>P<SSSAAAPAA------------------E--18
CACNA1SMEP----------------------->-<------------------------------3
cons                          > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R8Pc.23G>C Putative BenignSIFT: tolerated
Polyphen: benign
p.R8Qc.23G>A Putative BenignSIFT:
Polyphen: