Paralogue Annotation for RYR1 residue 12

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 12
Reference Amino Acid: F - Phenylalanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 12

No paralogue variants have been mapped to residue 12 for RYR1.



RYR1MGD-AE-GEDEVQ>F<LRTDDEVVLQCSATVLKEQLKLCLAAEGFG42
RYR2MADGGE-GEDEIQ>F<LRTDDEVVLQCTATIHKEQQKLCLAAEGFG43
RYR3MAEGGEGGEDEIQ>F<LRTEDEVVLQCIATIHKEQRKFCLAAEGLG44
cons             > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F12Lc.34T>C Putative BenignSIFT: deleterious
Polyphen: possibly damaging