Paralogue Annotation for RYR2 residue 783

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 783
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 783

No paralogue variants have been mapped to residue 783 for RYR2.

RYR2	DVISCCLDLSAPSISFRINGQPVQGMFENF>N<IDGLFFPVVSFSAGIKVRFLLGGRHGEFKF	813
RYR1	DVISCCLDLSVPSISFRINGCPVQGVFESF>N<LDGLFFPVVSFSAGVKVRFLLGGRHGEFKF	801
RYR3	DVVSCCLDLGVPSISFRINGQPVQGMFENF>N<TDGLFFPVMSFSAGVKVRFLMGGRHGEFKF	800
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N783S	c.2348A>G	Putative Benign			SIFT: Polyphen: