Paralogue Annotation for RYR1 residue 2594

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2594
Reference Amino Acid: S - Serine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2594

No paralogue variants have been mapped to residue 2594 for RYR1.



RYR1KCAPLFAGTEHRAIMVDSMLHTVYRLSRGR>S<LTKAQRDVIEDCLMSLCRYIRPSMLQHLLR2624
RYR2RCAPLFAGTEHHASLIDSLLHTVYRLSKGC>S<LTKAQRDSIEVCLLSICGQLRPSMMQHLLR2590
RYR3RCAPLFAGTEHCTSLIDSTLQTIYRLSKGR>S<LTKAQRDTIEECLLAICNHLRPSMLQQLLR2487
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.S2594Lc.7781C>T Putative BenignSIFT:
Polyphen: