Paralogue Annotation for RYR2 residue 2145

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2145
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2145

No paralogue variants have been mapped to residue 2145 for RYR2.

RYR2	DTINLLASLGQIRSLLSVRMGKEEEKLMIR>G<LGDIMNNKVFYQHPNLMRALGMHETVMEVM	2175
RYR1	DTMSLLECLGQIRSLLIVQMGPQEENLMIQ>S<IGNIMNNKVFYQHPNLMRALGMHETVMEVM	2211
RYR3	DTINLLAALGQIRSLLSVRMGKEEELLMIN>G<LGDIMNNKVFYQHPNLMRVLGMHETVMEVM	2073
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2145R	c.6433G>C	Putative Benign			SIFT: Polyphen: