Paralogue Annotation for SCN5A residue 533

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 533
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 533

No paralogue variants have been mapped to residue 533 for SCN5A.

SCN5A	RGLSRTSMKPRSSRG--SIF------T--F>R<R-----R-DLG-----SEA-------DFAD	545
SCN1A	SIRGSLFSPRRNSRT--SLF------S--F>R<G---RAK-DVG-----SEN-------DFAD	592
SCN2A	SIRGSLFSPRRNSRA--SLF------S--F>R<G---RAK-DIG-----SEN-------DFAD	595
SCN3A	SIRGSLFSPRRNSKT--SIF------S--F>R<G---RAK-DVG-----SEN-------DFAD	595
SCN4A	------------------------------>-<------------------------------
SCN7A	------------------------------>-<------------------------------
SCN8A	SIPGSPFLSRHNSKS--SIF------S--F>R<GPG-RFR-DPG-----SEN-------EFAD	585
SCN9A	SIRGSLFSARRSSRT--SLF------S--F>K<G---RGR-DIG-----SET-------EFAD	572
SCN10A	SFLGLASGKRRASHG--SVF------H--F>R<S---PGR-DIS-----LPE-------GVTD	522
SCN11A	------------------------------>-<------------------------------
CACNA1A	------------PFDG-ALR------R--T>T<I---K-K---------SKT-----------	431
CACNA1B	------------PLDA-VLK------R--A>A<T---K-K---------SRN-----------	427
CACNA1C	---------------EEKPR------N--M>S<M---P-----T-----SET-----------	471
CACNA1D	---------------E-GKR------N--T>S<M---P-----T-----SET-----------	471
CACNA1E	------------L--E-VLR------R--A>T<I---K-R---------SRT-----------	420
CACNA1F	---------------E-G-RAGHRPQL--A>E<L---T-NRRRGRLRWFSHS-----------	457
CACNA1G	-GNGTLRAPRASPEIQ-DRD------ANGS>R<RLMLP-P---------PS-TPALSGAPPGG	549
CACNA1H	-SHGSPRRPGPEPGAC-DTR------LVR->-<---AG-A---------PPSPPSPGRGPPD-	568
CACNA1I	-LHGP------------------------->-<-----------------A--------SPGN	517
CACNA1S	--------------------------S--L>D<E---G-----G-----SDT-----------	395
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R533H	c.1598G>A	Putative Benign		rs146848219	SIFT: deleterious Polyphen: probably damaging
p.R533C	c.1597C>T	Putative Benign			SIFT: Polyphen:
p.R533S	c.1597C>A	Putative Benign			SIFT: Polyphen: