Paralogue Annotation for RYR2 residue 2516

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2516
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2516

No paralogue variants have been mapped to residue 2516 for RYR2.

RYR2	HLLEVGFLPDLRAAASLDTAALSATDMALA>L<NRYLCTAVLPLLTRCAPLFAGTEHHASLID	2546
RYR1	HVLDVGFLPDMRAAASLDTATFSTTEMALA>L<NRYLCLAVLPLITKCAPLFAGTEHRAIMVD	2580
RYR3	HLLEVGFLPDLRASASLDTVSLSTTEAALA>L<NRYICSAVLPLLTRCAPLFAGTEHCTSLID	2443
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2516F	c.7546C>T	Putative Benign			SIFT: Polyphen: