Paralogue Annotation for RYR1 residue 2028

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2028
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2028

No paralogue variants have been mapped to residue 2028 for RYR1.



RYR1FRSPPQEQINMLLQFKDGTDEEDCPLPEEI>R<QDLLDFHQDLLAHCGIQLDGEEEEP--EEE2056
RYR2FRSPPQEQINMLLNFKD--DKSECPCPEEI>R<DQLLDFHEDLMTHCGIELDEDG-SLDGNSD2022
RYR3FRSPPQEQINMLLNFQL--GE-NCPCPEEI>R<EELYDFHEDLLLHCGVPLEEEE-EE--EED1920
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R2028Qc.6083G>A Putative BenignSIFT:
Polyphen: