Paralogue Annotation for SCN5A residue 53

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 53
Reference Amino Acid: R - Arginine
Protein Domain: N-terminus


Paralogue Variants mapped to SCN5A residue 53

No paralogue variants have been mapped to residue 53 for SCN5A.



SCN5ARMAEK-QARGSTTLQESRE-GLPEE--EAP>R<PQLDLQASKKLPDLYGNPPQELIGEPLEDL83
SCN1ARIAEE-KAKNPKPD----K-KDDDE--NGP>K<PNSDLEAGKNLPFIYGDIPPEMVSEPLEDL80
SCN2ARIAEE-KAKRPKQE----RKDEDDE--NGP>K<PNSDLEAGKSLPFIYGDIPPEMVSVPLEDL81
SCN3ARAAEE-KAKKPKKE----Q-DNDDE--NKP>K<PNSDLEAGKNLPFIYGDIPPEMVSEPLEDL80
SCN4ARAVEE-EARLQRNK----Q-MEIEE--PER>K<PRSDLEAGKNLPMIYGDPPPEVIGIPLEDL83
SCN7AHIAKT--------H----N-EDHEE--EDL>K<PTPDLEVGKKLPFIYGNLSQGMVSEPLEDV69
SCN8ARIAES-KLKKPPKADGSHR-EDDED--SKP>K<PNSDLEAGKSLPFIYGDIPQGLVAVPLEDF84
SCN9ARIAER-KSKEPKEE----K-KDDDE--EAP>K<PSSDLEAGKQLPFIYGDIPPGMVSEPLEDL78
SCN10AQIAAKQGT-KKARE-KHRE-QKDQE--EKP>R<PQLDLKACNQLPKFYGELPAELIGEPLEDL82
SCN11ARIAIQ-KEKKKSK-----D-QTGEV--PQP>R<PQLDLKASRKLPKLYGDIPRELIGKPLEDL81
CACNA1A-------------VVGSG-GGRGAG--GSR>Q<GGQ--------PGA-----------QRMYK49
CACNA1B---------------RGG-GAGGAG--GPG>P<GGLQ-------PGQ-----------RVLYK46
CACNA1CN--------A-NAAAGLA----PEH--IPT>P<GAALSWQAAIDAARQAKLMGSAGNATISTV76
CACNA1DT--------R-LPLSGEG----PTSQPNSS>K<QTVLSWQAAIDAARQAKAAQTMSTSAPPPV77
CACNA1E--------------SD-Q-SRNRQG--TPV>P<A----------SGQ-----------AAAYK40
CACNA1F-------------GAGPG----PEWGLCPG>P<----P-------AV--------EGESSGAS43
CACNA1GF--------M--RLND------LSG--AGG>R<P-----------G-----------PGSA--37
CACNA1HE--------A--ERGS------ELG--VSP>S<E-----------S-----------P-AA--56
CACNA1I---------E--PGVTTE----QPG--P-->R<S--P-------PS-----------SPPG--37
CACNA1S------------------------------>-<------------------------------
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R53Qc.158G>A Inherited ArrhythmiaLQTSSIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085