Paralogue Annotation for RYR1 residue 4179

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4179
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4179

No paralogue variants have been mapped to residue 4179 for RYR1.

RYR1	LSEHVPHDPRLHNFLELAESILEYFRPYLG>R<IEIMGASRRIERIYFEISETNRAQWEMPQV	4209
RYR2	LSEHMPNDTRLQTFLELAESVLNYFQPFLG>R<IEIMGSAKRIERVYFEISESSRTQWEKPQV	4165
RYR3	LSEHMPNDSRLKCLLDPAESVLNYFEPYLG>R<IEIMGGAKKIERVYFEISESSRTQWEKPQV	4061
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R4179H	c.12536G>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol. 2011 37(3):271-84. doi: 10.1111/j.1365-2990.2010.01149. 21062345
p.R4179P	c.12536G>C	Putative Benign			SIFT: deleterious Polyphen: benign