Paralogue Annotation for RYR1 residue 507

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 507
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 507

No paralogue variants have been mapped to residue 507 for RYR1.

RYR1	FQEEGMLSMVLNCIDRLNVYTTAAHFAEFA>G<EEAAESWKEIVNLLYELLASLIRGNRSNCA	537
RYR2	FQEEGMINLVLECIDRLHVYSSAAHFADVA>G<REAGESWKSILNSLYELLAALIRGNRKNCA	549
RYR3	FKEEGMLALVLNCIDRLNVYNSVAHFAGIA>R<EESGMAWKEILNLLYKLLAALIRGNRNNCA	536
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G507R	c.1519G>A	Putative Benign			SIFT: Polyphen: