Paralogue Annotation for RYR1 residue 2284

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2284
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2284

No paralogue variants have been mapped to residue 2284 for RYR1.

RYR1	LLENSGIG--L-GMQGSTPLDVAAASVIDN>N<ELALALQEQDLEKVVSYLAGCGLQSCPMLV	2314
RYR2	LLENSSVGLASPAMRGSTPLDVAAASVMDN>N<ELALALREPDLEKVVRYLAGCGLQSCQMLV	2281
RYR3	LLENSSVGLASPSMRGSTPLDVAASSVMDN>N<ELALSLEEPDLEKVVTYLAGCGLQSCPMLL	2178
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N2284S	c.6851A>G	Putative Benign			SIFT: Polyphen: