Paralogue Annotation for RYR1 residue 4894

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4894
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4894

No paralogue variants have been mapped to residue 4894 for RYR1.



RYR1YNKSEDEDEPDMKCDDMMTCYLFHMYVGVR>A<GGGIGDEIEDPAGDEYELYRVVFDITFFFF4924
RYR2YNKSEDGDTPDMKCDDMLTCYMFHMYVGVR>A<GGGIGDEIEDPAGDEYEIYRIIFDITFFFF4853
RYR3YNKSEDDDEPDMKCDDMMTCYLFHMYVGVR>A<GGGIGDEIEDPAGDPYEMYRIVFDITFFFF4756
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4894Vc.14681C>T Other Myopathyrs193922890SIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.A4894Tc.14680G>A Other Myopathyrs193922888SIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
Other Myopathy Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1). Anesth Analg. 2011 113(6):1461-7. doi: 10.1213/ANE.0b013e318232053e. 21926372
p.A4894Pc.14680G>C Other Myopathyrs193922888SIFT:
Polyphen:
ReportsOther Myopathy Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology. 2008 70(2):114-22. 17538032
Other Myopathy Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1). Anesth Analg. 2011 113(6):1461-7. doi: 10.1213/ANE.0b013e318232053e. 21926372