Paralogue Annotation for RYR2 residue 539

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 539
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 539

No paralogue variants have been mapped to residue 539 for RYR2.

RYR2	SSAAHFADVAGREAGESWKSILNSLYELLA>A<LIRGNRKNCAQFSGSLDWLISRLERLEASS	569
RYR1	TTAAHFAEFAGEEAAESWKEIVNLLYELLA>S<LIRGNRSNCALFSTNLDWLVSKLDRLEASS	557
RYR3	NSVAHFAGIAREESGMAWKEILNLLYKLLA>A<LIRGNRNNCAQFSNNLDWLISKLDRLESSS	556
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A539V	c.1616C>T	Putative Benign			SIFT: Polyphen: