Paralogue Annotation for RYR1 residue 539

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 539
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 539

No paralogue variants have been mapped to residue 539 for RYR1.

RYR1	EAAESWKEIVNLLYELLASLIRGNRSNCAL>F<STNLDWLVSKLDRLEASSGILEVLYCVLIE	569
RYR2	EAGESWKSILNSLYELLAALIRGNRKNCAQ>F<SGSLDWLISRLERLEASSGILEVLHCVLVE	581
RYR3	ESGMAWKEILNLLYKLLAALIRGNRNNCAQ>F<SNNLDWLISKLDRLESSSGILEVLHCILTE	568
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F539L	c.1615T>C	Other Myopathy		rs193922769	SIFT: Polyphen:
Reports		Other Myopathy		Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. Anaesth Intensive Care. 2008 36(3):391-403. 18564801