Paralogue Annotation for RYR1 residue 3330

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3330
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3330

No paralogue variants have been mapped to residue 3330 for RYR1.

RYR1	APPPCTAVTSDHLNSLLGNILRIIVNNLGI>D<EASWMKRLAVFAQPIVSRARPELLQSHFIP	3360
RYR2	AEMCCTALNSEHMNTLLGNILKIIYNNLGI>D<EGAWMKRLAVFSQPIINKVKPQLLKTHFLP	3321
RYR3	TGPCCTKVTSEHLSLILGNILKIINNNLGI>D<EASWMKRIAVYAQPIISKARPDLLRSHFIP	3217
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3330G	c.9989A>G	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Genotype-phenotype correlations in recessive RYR1-related myopathies. Orphanet J Rare Dis. 2013 8:117. doi: 10.1186/1750-1172-8-117. 23919265