Paralogue Annotation for RYR1 residue 3227

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3227
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3227

No paralogue variants have been mapped to residue 3227 for RYR1.

RYR1	LAAAMPVAFLEPQLNEYNACSVYTTKSPRE>R<AILGLPNSVEEMCPDIPVLERLMADIGGLA	3257
RYR2	FAGAFPVAFLETHLDKHNIYSIYNTKSSRE>R<AALSLPTNVEDVCPNIPSLEKLMEEIVELA	3222
RYR3	LAAAIPVAFLEPTLNRYNPLSVFNTKTPRE>R<SILGMPDTVEDMCPDIPQLEGLMKEINDLA	3118
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3227W	c.9679C>T	Putative Benign			SIFT: Polyphen:
p.R3227Q	c.9680G>A	Putative Benign			SIFT: Polyphen: benign