Paralogue Annotation for RYR2 residue 2149

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2149
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2149

No paralogue variants have been mapped to residue 2149 for RYR2.

RYR2	LLASLGQIRSLLSVRMGKEEEKLMIRGLGD>I<MNNKVFYQHPNLMRALGMHETVMEVMVNVL	2179
RYR1	LLECLGQIRSLLIVQMGPQEENLMIQSIGN>I<MNNKVFYQHPNLMRALGMHETVMEVMVNVL	2215
RYR3	LLAALGQIRSLLSVRMGKEEELLMINGLGD>I<MNNKVFYQHPNLMRVLGMHETVMEVMVNVL	2077
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2149V	c.6445A>G	Putative Benign			SIFT: Polyphen: