Paralogue Annotation for RYR2 residue 2512

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2512
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2512

No paralogue variants have been mapped to residue 2512 for RYR2.

RYR2	DFLLHLLEVGFLPDLRAAASLDTAALSATD>M<ALALNRYLCTAVLPLLTRCAPLFAGTEHHA	2542
RYR1	DFLLHVLDVGFLPDMRAAASLDTATFSTTE>M<ALALNRYLCLAVLPLITKCAPLFAGTEHRA	2576
RYR3	TFLLHLLEVGFLPDLRASASLDTVSLSTTE>A<ALALNRYICSAVLPLLTRCAPLFAGTEHCT	2439
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2512T	c.7535T>C	Putative Benign			SIFT: Polyphen: