Paralogue Annotation for RYR1 residue 2570

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2570
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2570

No paralogue variants have been mapped to residue 2570 for RYR1.



RYR1TFSTTEMALALNRYLCLAVLPLITKCAPLF>A<GTEHRAIMVDSMLHTVYRLSRGRSLTKAQR2600
RYR2ALSATDMALALNRYLCTAVLPLLTRCAPLF>A<GTEHHASLIDSLLHTVYRLSKGCSLTKAQR2566
RYR3SLSTTEAALALNRYICSAVLPLLTRCAPLF>A<GTEHCTSLIDSTLQTIYRLSKGRSLTKAQR2463
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A2570Vc.7709C>T Putative BenignSIFT:
Polyphen:
p.A2570Ec.7709C>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing. Neuromuscul Disord. 2015 25(8):617-24. doi: 10.1016/j.nmd.2015.03.002. 25987458