Paralogue Annotation for RYR1 residue 258

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 258
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 258

No paralogue variants have been mapped to residue 258 for RYR1.



RYR1CLTISPAD-SDDQRRLVYYEGGAVCTHARS>L<WRLEPLRISWSGSHLRWGQPLRVRHVTTGQ288
RYR2CLTVPSGEHGEEQRRTVHYEGGAVSVHARS>L<WRLETLRVAWSGSHIRWGQPFRLRHVTTGK304
RYR3CLTIPSTDQNDSQHRRIFYEAGGAGTRARS>L<WRVEPLRISWSGSNIRWGQAFRLRHLTTGH293
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L258Fc.772C>T Putative BenignSIFT:
Polyphen: