Paralogue Annotation for RYR2 residue 279

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 279
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 279

No paralogue variants have been mapped to residue 279 for RYR2.



RYR2SGEHGEEQRRTVHYEGGAVSVHARSLWRLE>T<LRVAWSGSHIRWGQPFRLRHVTTGKYLSLM309
RYR1PAD-SDDQRRLVYYEGGAVCTHARSLWRLE>P<LRISWSGSHLRWGQPLRVRHVTTGQYLALT293
RYR3STDQNDSQHRRIFYEAGGAGTRARSLWRVE>P<LRISWSGSNIRWGQAFRLRHLTTGHYLALT298
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T279Mc.836C>T Putative BenignSIFT: tolerated
Polyphen: possibly damaging