Paralogue Annotation for RYR1 residue 4881

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4881
Reference Amino Acid: M - Methionine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4881

No paralogue variants have been mapped to residue 4881 for RYR1.



RYR1LYTVVAFNFFRKFYNKSEDEDEPDMKCDDM>M<TCYLFHMYVGVRAGGGIGDEIEDPAGDEYE4911
RYR2LYTVVAFNFFRKFYNKSEDGDTPDMKCDDM>L<TCYMFHMYVGVRAGGGIGDEIEDPAGDEYE4840
RYR3LYTVVAFNFFRKFYNKSEDDDEPDMKCDDM>M<TCYLFHMYVGVRAGGGIGDEIEDPAGDPYE4743
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M4881Lc.14641A>T Putative BenignSIFT: tolerated
Polyphen: benign
p.M4881Ic.14643G>T Putative BenignSIFT: deleterious
Polyphen: benign
p.M4881Ic.14643G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. J Hum Genet. 2016 61(6):497-505. doi: 10.1038/jhg.2016.2. 26841830