Paralogue Annotation for RYR1 residue 2230

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2230
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2230

No paralogue variants have been mapped to residue 2230 for RYR1.

RYR1	ALGMHETVMEVMVNVLGGGESKEIRFPKMV>T<SCCRFLCYFCRISRQNQRSMFDHLSYLLEN	2260
RYR2	ALGMHETVMEVMVNVLGGGESKEITFPKMV>A<NCCRFLCYFCRISRQNQKAMFDHLSYLLEN	2224
RYR3	VLGMHETVMEVMVNVLGT-EKSQIAFPKMV>A<SCCRFLCYFCRISRQNQKAMFEHLSYLLEN	2121
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2230S	c.6688A>T	Putative Benign		rs200630616	SIFT: Polyphen: benign