Paralogue Annotation for RYR2 residue 1512

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1512
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 1512

No paralogue variants have been mapped to residue 1512 for RYR2.



RYR2NCYMVCAGESMSPGQ-G-RNNNGLEIGCVV>D<AASGLLTFIANGKELSTYYQVEPSTKLFPA1542
RYR1NCYMVWGGDFVSPGQQGRISHTDLVIGCLV>D<LATGLMTFTANGKESNTFFQVEPNTKLFPA1550
RYR3NCYMVWGGDIVASSQRSNRSNVDLEIGCLV>D<LAMGMLSFSANGKELGTCYQVEPNTKVFPA1446
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D1512Gc.4535A>G Putative BenignSIFT: deleterious
Polyphen: probably damaging