Paralogue Annotation for RYR1 residue 2017

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2017
Reference Amino Acid: D - Aspartate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2017

No paralogue variants have been mapped to residue 2017 for RYR1.



RYR1TAAETARRTREFRSPPQEQINMLLQFKDGT>D<EEDCPLPEEIRQDLLDFHQDLLAHCGIQLD2047
RYR2SAALTARKTKEFRSPPQEQINMLLNFKD-->D<KSECPCPEEIRDQLLDFHEDLMTHCGIELD2012
RYR3SAALTARKTKEFRSPPQEQINMLLNFQL-->G<E-NCPCPEEIREELYDFHEDLLLHCGVPLE1912
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D2017Nc.6049G>A Putative BenignSIFT:
Polyphen: