Paralogue Annotation for RYR1 residue 2990

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2990
Reference Amino Acid: P - Proline
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2990

No paralogue variants have been mapped to residue 2990 for RYR1.



RYR1LQQLLRWMDISQEFIAHLEAVVSSGRVEKS>P<HEQEIKFFAKILLPLINQYFTNHCLYFLST3020
RYR2LQQLIRYVDEAHQYILEFDGG-SRGKGEHF>P<YEQEIKFFAKVVLPLIDQYFKNHRLYFLSA2985
RYR3LKKILKYVDSAQEFIAHLEAIVSSGKTEKS>P<RDQEIKFFAKVLLPLVDQYFTSHCLYFLSS2881
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P2990Lc.8969C>T Putative BenignSIFT:
Polyphen: