Paralogue Annotation for RYR2 residue 280

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 280
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region


Paralogue Variants mapped to RYR2 residue 280

No paralogue variants have been mapped to residue 280 for RYR2.



RYR2GEHGEEQRRTVHYEGGAVSVHARSLWRLET>L<RVAWSGSHIRWGQPFRLRHVTTGKYLSLME310
RYR1AD-SDDQRRLVYYEGGAVCTHARSLWRLEP>L<RISWSGSHLRWGQPLRVRHVTTGQYLALTE294
RYR3TDQNDSQHRRIFYEAGGAGTRARSLWRVEP>L<RISWSGSNIRWGQAFRLRHLTTGHYLALTE299
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Leu280Proc.839T>C UnknownSIFT:
Polyphen: