Paralogue Annotation for RYR1 residue 506

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 506
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 506

No paralogue variants have been mapped to residue 506 for RYR1.

RYR1	LFQEEGMLSMVLNCIDRLNVYTTAAHFAEF>A<GEEAAESWKEIVNLLYELLASLIRGNRSNC	536
RYR2	LFQEEGMINLVLECIDRLHVYSSAAHFADV>A<GREAGESWKSILNSLYELLAALIRGNRKNC	548
RYR3	LFKEEGMLALVLNCIDRLNVYNSVAHFAGI>A<REESGMAWKEILNLLYKLLAALIRGNRNNC	535
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A506T	c.1516G>A	Putative Benign			SIFT: Polyphen: