Paralogue Annotation for RYR2 residue 2153

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2153
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2153

No paralogue variants have been mapped to residue 2153 for RYR2.

RYR2	LGQIRSLLSVRMGKEEEKLMIRGLGDIMNN>K<VFYQHPNLMRALGMHETVMEVMVNVLGGGE	2183
RYR1	LGQIRSLLIVQMGPQEENLMIQSIGNIMNN>K<VFYQHPNLMRALGMHETVMEVMVNVLGGGE	2219
RYR3	LGQIRSLLSVRMGKEEELLMINGLGDIMNN>K<VFYQHPNLMRVLGMHETVMEVMVNVLGT-E	2080
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2153E	c.6457A>G	Other Disease Phenotype			SIFT: Polyphen:
Reports		Other Disease Phenotype		Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases. World J Gastroenterol. 2015 21(14):4136-49. doi: 10.3748/wjg.v21.i14.4136. 25892863