Paralogue Annotation for RYR1 residue 2003

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2003
Reference Amino Acid: Q - Glutamine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2003

No paralogue variants have been mapped to residue 2003 for RYR1.



RYR1QRSRYGLLIKAFSMTAAETARRTREFRSPP>Q<EQINMLLQFKDGTDEEDCPLPEEIRQDLLD2033
RYR2QRFRYNEVMQALNMSAALTARKTKEFRSPP>Q<EQINMLLNFKD--DKSECPCPEEIRDQLLD1998
RYR3QKFRYNELMQALNMSAALTARKTKEFRSPP>Q<EQINMLLNFQL--GE-NCPCPEEIREELYD1898
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q2003Rc.6008A>G Putative BenignSIFT:
Polyphen: