Paralogue Annotation for RYR1 residue 514

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 514
Reference Amino Acid: W - Tryptophan
Protein Domain:


Paralogue Variants mapped to RYR1 residue 514

No paralogue variants have been mapped to residue 514 for RYR1.



RYR1SMVLNCIDRLNVYTTAAHFAEFAGEEAAES>W<KEIVNLLYELLASLIRGNRSNCALFSTNLD544
RYR2NLVLECIDRLHVYSSAAHFADVAGREAGES>W<KSILNSLYELLAALIRGNRKNCAQFSGSLD556
RYR3ALVLNCIDRLNVYNSVAHFAGIAREESGMA>W<KEILNLLYKLLAALIRGNRNNCAQFSNNLD543
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.W514Lc.1541G>T Putative BenignSIFT:
Polyphen: