Paralogue Annotation for RYR1 residue 3840

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3840
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3840

No paralogue variants have been mapped to residue 3840 for RYR1.



RYR1EVQQKMLDYLKDKKEVGFFQSIQALMQTCS>V<LDLNAFERQNKAEGLGMVNEDGTVINRQNG3870
RYR2TVQQKMLDYLKEKKDVGFFQSLAGLMQSCS>V<LDLNAFERQNKAEGLGMVTEEGS------G3826
RYR3GVQQKMLDYLKEKKDAGFFQSLSGLMQSCS>V<LDLNAFERQNKAEGLGMVTEEGTLIVRERG3722
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V3840Ic.11518G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381