Paralogue Annotation for SCN5A residue 458

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 458
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 458

No paralogue variants have been mapped to residue 458 for SCN5A.

SCN5A	TIRGVDTVS--------------------->R<SSLEMSPLAPVNSHERRSKRRKR----MS-	483
SCN1A	QQAATATAS----EHSREPSAAGRL----S>D<SSSEASKLSSKSAKERRNRRKKRKQKEQS-	510
SCN2A	QAAAAAASA-----ESRDFSGAGGIGVF-S>E<SSSVASKLSSKSEKELKNRRKKKKQKEQS-	514
SCN3A	QAVAAASAA------SRDFSGIGGLGEL-L>E<SSSEASKLSSKSAKEWRNRRKKRRQREHL-	512
SCN4A	EKAKAAQAL--------------------->-<----------------------------E-	492
SCN7A	EAK--------------------------->-<------------------------------	432
SCN8A	QAAAMATSAGTVSEDAIEEEGEEGG-GS-P>R<SSSEISKLSSKSAKERRNRRKKRKQKELS-	504
SCN9A	EAIAAAAAE----YTSIRRSRIMGL----S>E<SSSETSKLSSKSAKERRNRRKKKNQKKLS-	489
SCN10A	AALGIDTTS--------------------->L<HSHNGSPLTSKNASERRHRIKPRV----S-	467
SCN11A	VAMGIDRSS--------------------->L<TSLETSYFTPKKRKLFGNKKRKS----FF-	470
CACNA1A	SKA-EE-----------------VILAEDE>T<D-----------------------------	410
CACNA1B	FKA-EE-----------------VMLAEED>R<N-----------------------------	406
CACNA1C	TQA-ED-----------------IDPENED>E<G-----------------------------	455
CACNA1D	TQA-ED-----------------IDPENEE>E<G-----------------------------	456
CACNA1E	DKA-EE-----------------VMLAEEN>K<N-----------------------------	401
CACNA1F	TQA-EE-----------------LDMEDPS>A<D------------------------DNLG-	426
CACNA1G	LRKAAR-------------RLAQVSRA--A>G<VR-----------------------VGLLS	466
CACNA1H	FRKVKR-------------RSLRLYARW-Q>S<RW-----------------------RK-KV	490
CACNA1I	LRKAKR-------------RALGLYQAL-Q>S<RR-----------------------QA-L-	467
CACNA1S	TQG-EV-----------------MDVEDFR>E<G-----------------------------	384
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See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R458H	c.1373G>A	Putative Benign		rs373692157	SIFT: tolerated Polyphen: benign
p.R458C	c.1372C>T	Other Cardiac Phenotype			SIFT: Polyphen:
Reports		Other Cardiac Phenotype		The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome. Heart Rhythm. 2015 12(6):1241-9. doi: 10.1016/j.hrthm.2015.03.013. 25757662