Paralogue Annotation for RYR1 residue 521

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 521
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 521

No paralogue variants have been mapped to residue 521 for RYR1.

RYR1	DRLNVYTTAAHFAEFAGEEAAESWKEIVNL>L<YELLASLIRGNRSNCALFSTNLDWLVSKLD	551
RYR2	DRLHVYSSAAHFADVAGREAGESWKSILNS>L<YELLAALIRGNRKNCAQFSGSLDWLISRLE	563
RYR3	DRLNVYNSVAHFAGIAREESGMAWKEILNL>L<YKLLAALIRGNRNNCAQFSNNLDWLISKLD	550
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L521F	c.1561C>T	Putative Benign			SIFT: Polyphen:
p.L521V	c.1561C>G	Putative Benign			SIFT: Polyphen: