Paralogue Annotation for RYR2 residue 2152

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2152
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2152

No paralogue variants have been mapped to residue 2152 for RYR2.

RYR2	SLGQIRSLLSVRMGKEEEKLMIRGLGDIMN>N<KVFYQHPNLMRALGMHETVMEVMVNVLGGG	2182
RYR1	CLGQIRSLLIVQMGPQEENLMIQSIGNIMN>N<KVFYQHPNLMRALGMHETVMEVMVNVLGGG	2218
RYR3	ALGQIRSLLSVRMGKEEELLMINGLGDIMN>N<KVFYQHPNLMRVLGMHETVMEVMVNVLGT-	2079
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N2152S	c.6455A>G	Putative Benign			SIFT: Polyphen: