Paralogue Annotation for RYR1 residue 3196

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3196
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3196

No paralogue variants have been mapped to residue 3196 for RYR1.

RYR1	YRTLCSIYSLGTTKNTYVEKLRPALGECLA>R<LAAAMPVAFLEPQLNEYNACSVYTTKSPRE	3226
RYR2	YRILTSLYALGTSKSIYVERQRSALGECLA>A<FAGAFPVAFLETHLDKHNIYSIYNTKSSRE	3191
RYR3	YHILCSLYSLGTGKNIYVERQRPALGECLA>S<LAAAIPVAFLEPTLNRYNPLSVFNTKTPRE	3087
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3196C	c.9586C>T	Putative Benign			SIFT: Polyphen: