Paralogue Annotation for RYR2 residue 2492

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2492
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2492

No paralogue variants have been mapped to residue 2492 for RYR2.

RYR2	PDHKAAMVLFLDRVYGIEVQDFLLHLLEVG>F<LPDLRAAASLDTAALSATDMALALNRYLCT	2522
RYR1	PDHKASMVLFLDRVYGIENQDFLLHVLDVG>F<LPDMRAAASLDTATFSTTEMALALNRYLCL	2556
RYR3	PDHKAPMVLFLDRVYGIKDQTFLLHLLEVG>F<LPDLRASASLDTVSLSTTEAALALNRYICS	2419
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F2492S	c.7475T>C	Putative Benign			SIFT: Polyphen: