Paralogue Annotation for RYR2 residue 2485

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2485
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2485

No paralogue variants have been mapped to residue 2485 for RYR2.

RYR2	DMSAGFCPDHKAAMVLFLDRVYGIEVQDFL>L<HLLEVGFLPDLRAAASLDTAALSATDMALA	2515
RYR1	KMSASFVPDHKASMVLFLDRVYGIENQDFL>L<HVLDVGFLPDMRAAASLDTATFSTTEMALA	2549
RYR3	DMAANFCPDHKAPMVLFLDRVYGIKDQTFL>L<HLLEVGFLPDLRASASLDTVSLSTTEAALA	2412
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2485F	c.7453C>T	Putative Benign			SIFT: Polyphen: