Paralogue Annotation for RYR1 residue 4940

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4940
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4940

No paralogue variants have been mapped to residue 4940 for RYR1.

RYR1	YELYRVVFDITFFFFVIVILLAIIQGLIID>A<FGELRDQQEQVKEDMETKCFICGIGSDYFD	4970
RYR2	YEIYRIIFDITFFFFVIVILLAIIQGLIID>A<FGELRDQQEQVKEDMETKCFICGIGNDYFD	4899
RYR3	YEMYRIVFDITFFFFVIVILLAIIQGLIID>A<FGELRDQQEQVREDMETKCFICGIGNDYFD	4802
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4940T	c.14818G>A	Other Myopathy		rs118192158	SIFT: Polyphen:
Reports		Other Myopathy		Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord. 2003 13(2):151-7. 12565913
		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
		Unknown		Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146