Paralogue Annotation for RYR1 residue 2423

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2423
Reference Amino Acid: M - Methionine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2423

No paralogue variants have been mapped to residue 2423 for RYR1.



RYR1DGPGIRRDRRREHFGEEPPEENRVHLGHAI>M<SFYAALIDLLGRCAPEMHLIQAGKGEALRI2453
RYR2DGPSPNS-GSSKTLDTEEEEDDTIHMGNAI>M<TFYSALIDLLGRCAPEMHLIHAGKGEAIRI2419
RYR3DLPSQGY-KREVSTGDDEEEEEIVHMGNAI>M<SFYSALIDLLGRCAPEMHLIQTGKGEAIRI2316
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M2423Kc.7268T>A Other Myopathyrs118192174SIFT:
Polyphen:
ReportsOther Myopathy Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology. 2005 65(12):1930-5. 16380615
Other Myopathy Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935