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.



RYR2DFLLHLLEVGFLPDLRAAASLDTAALSATD>M<ALALNRYLCTAVLPLLTRCAPLFAGTEHHA2542
RYR1DFLLHVLDVGFLPDMRAAASLDTATFSTTE>M<ALALNRYLCLAVLPLITKCAPLFAGTEHRA2576
RYR3TFLLHLLEVGFLPDLRASASLDTVSLSTTE>A<ALALNRYICSAVLPLLTRCAPLFAGTEHCT2439
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M2512Tc.7535T>C Putative BenignSIFT:
Polyphen: