Paralogue Annotation for RYR2 residue 2144

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2144
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2144

No paralogue variants have been mapped to residue 2144 for RYR2.

RYR2	EDTINLLASLGQIRSLLSVRMGKEEEKLMI>R<GLGDIMNNKVFYQHPNLMRALGMHETVMEV	2174
RYR1	EDTMSLLECLGQIRSLLIVQMGPQEENLMI>Q<SIGNIMNNKVFYQHPNLMRALGMHETVMEV	2210
RYR3	SDTINLLAALGQIRSLLSVRMGKEEELLMI>N<GLGDIMNNKVFYQHPNLMRVLGMHETVMEV	2072
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2144C	c.6430C>T	Putative Benign			SIFT: Polyphen: