Paralogue Annotation for SCN5A residue 466

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 466
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 466

No paralogue variants have been mapped to residue 466 for SCN5A.



SCN5AS---------------------RSSLEMSP>L<APVNSHERRSKRRKR----MS-SGTE-ECG490
SCN1AS----EHSREPSAAGRL----SDSSSEASK>L<SSKSAKERRNRRKKRKQKEQS-GGEE-KDE517
SCN2AA-----ESRDFSGAGGIGVF-SESSSVASK>L<SSKSEKELKNRRKKKKQKEQS-GEEE-KND521
SCN3AA------SRDFSGIGGLGEL-LESSSEASK>L<SSKSAKEWRNRRKKRRQREHL-EGNN-KGE519
SCN4AL----------------------------->-<--------------------E-GGEA-DGD499
SCN7A------------------------------>-<------------------------------
SCN8AAGTVSEDAIEEEGEEGG-GS-PRSSSEISK>L<SSKSAKERRNRRKKRKQKELS-EGEE-KGD511
SCN9AE----YTSIRRSRIMGL----SESSSETSK>L<SSKSAKERRNRRKKKNQKKLS-SGEE-KGD496
SCN10AS---------------------LHSHNGSP>L<TSKNASERRHRIKPRV----S-EGST-ED-473
SCN11AS---------------------LTSLETSY>F<TPKKRKLFGNKKRKS----FF-LRES-GKD477
CACNA1A---------------VILAEDETD------>-<-----------------------------G411
CACNA1B---------------VMLAEEDRN------>-<-----------------------------A407
CACNA1C---------------IDPENEDEG------>-<-----------------------------M456
CACNA1D---------------IDPENEEEG------>-<-----------------------------G457
CACNA1E---------------VMLAEENKN------>-<-----------------------------A402
CACNA1F---------------LDMEDPSAD------>-<-----------------DNLG-SM-----A429
CACNA1G-----------RLAQVSRA--AGVR----->-<-----------------VGLLSSPAP-LGG473
CACNA1H-----------RSLRLYARW-QSRW----->-<-----------------RK-KVDPSA-VQG497
CACNA1I-----------RALGLYQAL-QSRR----->-<-----------------QA-L-GPEAPAPA475
CACNA1S---------------MDVEDFREG------>-<-----------------------------K385
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L466Fc.1398G>T Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria. Heart Rhythm. 2014 11(7):1176-83. doi: 10.1016/j.hrthm.2014.04.010. 24721456