Paralogue Annotation for RYR2 residue 3992

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3992
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 3992

No paralogue variants have been mapped to residue 3992 for RYR2.



RYR2SSQIELLKELMDLQKDMVVMLLSMLEGNVV>N<GTIGKQMVDMLVESSNNVEMILKFFDMFLK4022
RYR1SSQIELLKELLDLQKDMVVMLLSLLEGNVV>N<GMIARQMVDMLVESSSNVEMILKFFDMFLK4066
RYR3SSQIELLKELLDLLQDMVVMLLSLLEGNVV>N<GTIGKQMVDTLVESSTNVEMILKFFDMFLK3918
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N3992Hc.11974A>C Putative BenignSIFT:
Polyphen: