Paralogue Annotation for RYR1 residue 2999

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2999
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2999

No paralogue variants have been mapped to residue 2999 for RYR1.



RYR1ISQEFIAHLEAVVSSGRVEKSPHEQEIKFF>A<KILLPLINQYFTNHCLYFLSTPAKVLGSGG3029
RYR2EAHQYILEFDGG-SRGKGEHFPYEQEIKFF>A<KVVLPLIDQYFKNHRLYFLSAASRPLCSGG2994
RYR3SAQEFIAHLEAIVSSGKTEKSPRDQEIKFF>A<KVLLPLVDQYFTSHCLYFLSSPLKPLSSSG2890
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A2999Gc.8996C>G Putative Benignrs374272827SIFT: tolerated
Polyphen: benign