Paralogue Annotation for RYR1 residue 2521

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2521
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2521

No paralogue variants have been mapped to residue 2521 for RYR1.

RYR1	SASFVPDHKASMVLFLDRVYGIENQDFLLH>V<LDVGFLPDMRAAASLDTATFSTTEMALALN	2551
RYR2	SAGFCPDHKAAMVLFLDRVYGIEVQDFLLH>L<LEVGFLPDLRAAASLDTAALSATDMALALN	2517
RYR3	AANFCPDHKAPMVLFLDRVYGIKDQTFLLH>L<LEVGFLPDLRASASLDTVSLSTTEAALALN	2414
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2521M	c.7561G>A	Putative Benign			SIFT: Polyphen: