Paralogue Annotation for RYR1 residue 13

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 13
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 13

No paralogue variants have been mapped to residue 13 for RYR1.

RYR1	MGD-AE-GEDEVQF>L<RTDDEVVLQCSATVLKEQLKLCLAAEGFGN	43
RYR2	MADGGE-GEDEIQF>L<RTDDEVVLQCTATIHKEQQKLCLAAEGFGN	44
RYR3	MAEGGEGGEDEIQF>L<RTEDEVVLQCIATIHKEQRKFCLAAEGLGN	45
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L13V	c.37C>G	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 2008 29(5):670-8. 18253926
p.L13R	c.38T>G	Other Myopathy		rs193922744	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
		Other Myopathy		Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface. Nat Commun. 2013 4:1506. doi: 10.1038/ncomms2501. 23422674
		Other Myopathy		Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States. Anesth Analg. 2013 116(5):1078-86. doi: 10.1213/ANE.0b013e31828a71ff. 23558838