Paralogue Annotation for RYR1 residue 4838

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4838
Reference Amino Acid: L - Leucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4838

No paralogue variants have been mapped to residue 4838 for RYR1.



RYR1FFFAAHLLDIAMGVKTLRTILSSVTHNGKQ>L<VMTVGLLAVVVYLYTVVAFNFFRKFYNKSE4868
RYR2FFFAAHLLDIAMGFKTLRTILSSVTHNGKQ>L<VLTVGLLAVVVYLYTVVAFNFFRKFYNKSE4797
RYR3FFFAAHLLDIAMGFKTLRTILSSVTHNGKQ>L<VLTVGLLAVVVYLYTVVAFNFFRKFYNKSE4700
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L4838Vc.14512C>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients. Jpn J Pharmacol. 2002 88(2):159-66. 11928716