Paralogue Annotation for SCN5A residue 474

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 474
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 474

No paralogue variants have been mapped to residue 474 for SCN5A.



SCN5A--------------RSSLEMSPLAPVNSHE>R<RSKRRKR----MS-SGTE-ECGEDRLPKSD498
SCN1AREPSAAGRL----SDSSSEASKLSSKSAKE>R<RNRRKKRKQKEQS-GGEE-KDE-DEFQKSE524
SCN2ARDFSGAGGIGVF-SESSSVASKLSSKSEKE>L<KNRRKKKKQKEQS-GEEE-KND--RVRKSE527
SCN3ARDFSGIGGLGEL-LESSSEASKLSSKSAKE>W<RNRRKKRRQREHL-EGNN-KGERDSFPKSE527
SCN4A------------------------------>-<------------E-GGEA-DGD--------499
SCN7A------------------------------>-<------------------------------
SCN8AIEEEGEEGG-GS-PRSSSEISKLSSKSAKE>R<RNRRKKRKQKELS-EGEE-KGDPEKVFKSE519
SCN9AIRRSRIMGL----SESSSETSKLSSKSAKE>R<RNRRKKKNQKKLS-SGEE-KGDAEKLSKSE504
SCN10A--------------LHSHNGSPLTSKNASE>R<RHRIKPRV----S-EGST-ED--NKSPRSD480
SCN11A--------------LTSLETSYFTPKKRKL>F<GNKKRKS----FF-LRES-GKD--QPPGSD483
CACNA1A-------VILAEDETD-------------->-<---------------------GEQRH----415
CACNA1B-------VMLAEEDRN-------------->-<---------------------AEEKS----411
CACNA1C-------IDPENEDEG-------------->-<---------------------MD-------457
CACNA1D-------IDPENEEEG-------------->-<---------------------GE-------458
CACNA1E-------VMLAEENKN-------------->-<---------------------AGTSA----406
CACNA1F-------LDMEDPSAD-------------->-<---------DNLG-SM-----AE-------430
CACNA1G---RLAQVSRA--AGVR------------->-<---------VGLLSSPAP-LGGQETQPSSS481
CACNA1H---RSLRLYARW-QSRW------------->-<---------RK-KVDPSA-VQGQGPGHRQR505
CACNA1I---RALGLYQAL-QSRR------------->-<---------QA-L-GPEAPAPAK-PGPHAK482
CACNA1S-------MDVEDFREG-------------->-<---------------------KL-------386
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R474Kc.1421G>A Putative BenignSIFT:
Polyphen: