Paralogue Annotation for RYR1 residue 2529

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2529
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2529

No paralogue variants have been mapped to residue 2529 for RYR1.

RYR1	KASMVLFLDRVYGIENQDFLLHVLDVGFLP>D<MRAAASLDTATFSTTEMALALNRYLCLAVL	2559
RYR2	KAAMVLFLDRVYGIEVQDFLLHLLEVGFLP>D<LRAAASLDTAALSATDMALALNRYLCTAVL	2525
RYR3	KAPMVLFLDRVYGIKDQTFLLHLLEVGFLP>D<LRASASLDTVSLSTTEAALALNRYICSAVL	2422
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2529N	c.7585G>A	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. Am J Med Genet A. 2012 158A(4):772-8. doi: 10.1002/ajmg.a.35243. 22407809