Paralogue Annotation for RYR2 residue 2520

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2520
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2520

No paralogue variants have been mapped to residue 2520 for RYR2.

RYR2	VGFLPDLRAAASLDTAALSATDMALALNRY>L<CTAVLPLLTRCAPLFAGTEHHASLIDSLLH	2550
RYR1	VGFLPDMRAAASLDTATFSTTEMALALNRY>L<CLAVLPLITKCAPLFAGTEHRAIMVDSMLH	2584
RYR3	VGFLPDLRASASLDTVSLSTTEAALALNRY>I<CSAVLPLLTRCAPLFAGTEHCTSLIDSTLQ	2447
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2520P	c.7559T>C	Putative Benign			SIFT: Polyphen: