Paralogue Annotation for RYR1 residue 214

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 214
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 214

No paralogue variants have been mapped to residue 214 for RYR1.



RYR1GELQVDASFMQTLWNMNPICSR--CEEGFV>T<GGHVLRLFHGHMDECLTISPAD-SDDQRRL243
RYR2GSLHVDAAFQQTLWSVAPISSGSEAAQGYL>I<GGDVLRLLHGHMDECLTVPSGEHGEEQRRT259
RYR3GNIQVDASFMQTLWNVHPTCSGSSIEEGYL>L<GGHVVRLFHGH-DECLTIPSTDQNDSQHRR248
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T214Mc.641C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027