Paralogue Annotation for RYR1 residue 511

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 511
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 511

No paralogue variants have been mapped to residue 511 for RYR1.



RYR1GMLSMVLNCIDRLNVYTTAAHFAEFAGEEA>A<ESWKEIVNLLYELLASLIRGNRSNCALFST541
RYR2GMINLVLECIDRLHVYSSAAHFADVAGREA>G<ESWKSILNSLYELLAALIRGNRKNCAQFSG553
RYR3GMLALVLNCIDRLNVYNSVAHFAGIAREES>G<MAWKEILNLLYKLLAALIRGNRNNCAQFSN540
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A511Sc.1531G>T Putative BenignSIFT:
Polyphen:
p.Ala511Aspc.1532C>A UnknownSIFT:
Polyphen: