Paralogue Annotation for RYR1 residue 2324

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2324
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2324

No paralogue variants have been mapped to residue 2324 for RYR1.

RYR1	DLEKVVSYLAGCGLQSCPMLVAKGYPDIGW>N<PCGGERYLDFLRFAVFVNGESVEENANVVV	2354
RYR2	DLEKVVRYLAGCGLQSCQMLVSKGYPDIGW>N<PVEGERYLDFLRFAVFCNGESVEENANVVV	2321
RYR3	DLEKVVTYLAGCGLQSCPMLLAKGYPDVGW>N<PIEGERYLSFLRFAVFVNSESVEENASVVV	2218
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N2324S	c.6971A>G	Putative Benign			SIFT: Polyphen: