Paralogue Annotation for RYR1 residue 3233

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3233
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3233

No paralogue variants have been mapped to residue 3233 for RYR1.

RYR1	VAFLEPQLNEYNACSVYTTKSPRERAILGL>P<NSVEEMCPDIPVLERLMADIGGLAESGARY	3263
RYR2	VAFLETHLDKHNIYSIYNTKSSRERAALSL>P<TNVEDVCPNIPSLEKLMEEIVELAESGIRY	3228
RYR3	VAFLEPTLNRYNPLSVFNTKTPRERSILGM>P<DTVEDMCPDIPQLEGLMKEINDLAESGARY	3124
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P3233S	c.9697C>T	Putative Benign			SIFT: Polyphen: