Paralogue Annotation for RYR1 residue 3853

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3853
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3853

No paralogue variants have been mapped to residue 3853 for RYR1.

RYR1	KEVGFFQSIQALMQTCSVLDLNAFERQNKA>E<GLGMVNEDGTVINRQNGEKVMADDEFTQDL	3883
RYR2	KDVGFFQSLAGLMQSCSVLDLNAFERQNKA>E<GLGMVTEEGS------GEKVLQDDEFTCDL	3839
RYR3	KDAGFFQSLSGLMQSCSVLDLNAFERQNKA>E<GLGMVTEEGTLIVRERGEKVLQNDEFTRDL	3735
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3853K	c.11557G>A	Other Myopathy		rs145087576	SIFT: Polyphen:
Reports		Other Myopathy		Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol. 2012 124(2):273-83. 22526018
		Other Myopathy		Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946
		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