Paralogue Annotation for RYR1 residue 3138

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3138
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3138

No paralogue variants have been mapped to residue 3138 for RYR1.

RYR1	ENLRLGKVSQARTQVKGVGQNLTYTTVALL>P<VLTTLFQHIAQHQFGDDVILDDVQVSCYRT	3168
RYR2	ENLKQGQFTHTRNQPKGVTQIINYTTVALL>P<MLSSLFEHIGQHQFGEDLILEDVQVSCYRI	3133
RYR3	ENLKLGKFTHSRTQIKGVSQNINYTTVALL>P<ILTSIFEHVTQHQFGMDLLLGDVQISCYHI	3029
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P3138L	c.9413C>T	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