Paralogue Annotation for RYR1 residue 2205

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2205
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2205

No paralogue variants have been mapped to residue 2205 for RYR1.

RYR1	ENLMIQSIGNIMNNKVFYQHPNLMRALGMH>E<TVMEVMVNVLGGGESKEIRFPKMVTSCCRF	2235
RYR2	EKLMIRGLGDIMNNKVFYQHPNLMRALGMH>E<TVMEVMVNVLGGGESKEITFPKMVANCCRF	2199
RYR3	ELLMINGLGDIMNNKVFYQHPNLMRVLGMH>E<TVMEVMVNVLGT-EKSQIAFPKMVASCCRF	2096
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2205K	c.6613G>A	Putative Benign			SIFT: Polyphen:
p.E2205Q	c.6613G>C	Putative Benign			SIFT: Polyphen: