Paralogue Annotation for SCN5A residue 470

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 470
Reference Amino Acid: N - Asparagine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 470

No paralogue variants have been mapped to residue 470 for SCN5A.



SCN5A------------------RSSLEMSPLAPV>N<SHERRSKRRKR----MS-SGTE-ECGEDRL494
SCN1A-EHSREPSAAGRL----SDSSSEASKLSSK>S<AKERRNRRKKRKQKEQS-GGEE-KDE-DEF520
SCN2A--ESRDFSGAGGIGVF-SESSSVASKLSSK>S<EKELKNRRKKKKQKEQS-GEEE-KND--RV523
SCN3A---SRDFSGIGGLGEL-LESSSEASKLSSK>S<AKEWRNRRKKRRQREHL-EGNN-KGERDSF523
SCN4A------------------------------>-<----------------E-GGEA-DGD----499
SCN7A------------------------------>-<------------------------------
SCN8ASEDAIEEEGEEGG-GS-PRSSSEISKLSSK>S<AKERRNRRKKRKQKELS-EGEE-KGDPEKV515
SCN9A-YTSIRRSRIMGL----SESSSETSKLSSK>S<AKERRNRRKKKNQKKLS-SGEE-KGDAEKL500
SCN10A------------------LHSHNGSPLTSK>N<ASERRHRIKPRV----S-EGST-ED--NKS476
SCN11A------------------LTSLETSYFTPK>K<RKLFGNKKRKS----FF-LRES-GKD--QP479
CACNA1A-----------VILAEDETD---------->-<-------------------------GEQRH415
CACNA1B-----------VMLAEEDRN---------->-<-------------------------AEEKS411
CACNA1C-----------IDPENEDEG---------->-<-------------------------MD---457
CACNA1D-----------IDPENEEEG---------->-<-------------------------GE---458
CACNA1E-----------VMLAEENKN---------->-<-------------------------AGTSA406
CACNA1F-----------LDMEDPSAD---------->-<-------------DNLG-SM-----AE---430
CACNA1G-------RLAQVSRA--AGVR--------->-<-------------VGLLSSPAP-LGGQETQ477
CACNA1H-------RSLRLYARW-QSRW--------->-<-------------RK-KVDPSA-VQGQGPG501
CACNA1I-------RALGLYQAL-QSRR--------->-<-------------QA-L-GPEAPAPAK-PG478
CACNA1S-----------MDVEDFREG---------->-<-------------------------KL---386
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N470Kc.1410C>G Inherited ArrhythmiaAFrs199473115SIFT: tolerated
Polyphen: benign
ReportsInherited ArrhythmiaAF Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609