Paralogue Annotation for RYR1 residue 4860

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4860
Reference Amino Acid: F - Phenylalanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4860

No paralogue variants have been mapped to residue 4860 for RYR1.



RYR1SVTHNGKQLVMTVGLLAVVVYLYTVVAFNF>F<RKFYNKSEDEDEPDMKCDDMMTCYLFHMYV4890
RYR2SVTHNGKQLVLTVGLLAVVVYLYTVVAFNF>F<RKFYNKSEDGDTPDMKCDDMLTCYMFHMYV4819
RYR3SVTHNGKQLVLTVGLLAVVVYLYTVVAFNF>F<RKFYNKSEDDDEPDMKCDDMMTCYLFHMYV4722
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F4860Vc.14578T>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943