Paralogue Annotation for RYR2 residue 503

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 503
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 503

No paralogue variants have been mapped to residue 503 for RYR2.

RYR2	EDKQNRLRALKNRQNLFQEEGMINLVLECI>D<RLHVYSSAAHFADVAGREAGESWKSILNSL	533
RYR1	EEKQSKLRSLRNRQSLFQEEGMLSMVLNCI>D<RLNVYTTAAHFAEFAGEEAAESWKEIVNLL	521
RYR3	EDKQNKLRSLKNRQNLFKEEGMLALVLNCI>D<RLNVYNSVAHFAGIAREESGMAWKEILNLL	520
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D503G	c.1508A>G	Putative Benign			SIFT: Polyphen:
p.D503E	c.1509C>A	Putative Benign			SIFT: Polyphen: