Paralogue Annotation for RYR1 residue 510

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 510
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 510

No paralogue variants have been mapped to residue 510 for RYR1.

RYR1	EGMLSMVLNCIDRLNVYTTAAHFAEFAGEE>A<AESWKEIVNLLYELLASLIRGNRSNCALFS	540
RYR2	EGMINLVLECIDRLHVYSSAAHFADVAGRE>A<GESWKSILNSLYELLAALIRGNRKNCAQFS	552
RYR3	EGMLALVLNCIDRLNVYNSVAHFAGIAREE>S<GMAWKEILNLLYKLLAALIRGNRNNCAQFS	539
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A510V	c.1529C>T	Putative Benign			SIFT: Polyphen: