Paralogue Annotation for RYR1 residue 2153

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2153
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2153

No paralogue variants have been mapped to residue 2153 for RYR1.

RYR1	LLHRQYDGLGELLRALPRAYTISPSSVEDT>M<SLLECLGQIRSLLIVQMGPQEENLMIQSIG	2183
RYR2	LLHRQYDGIGGLVRALPKTYTINGVSVEDT>I<NLLASLGQIRSLLSVRMGKEEEKLMIRGLG	2147
RYR3	LLRRQYDSIGELLQALRKTYTISHTSVSDT>I<NLLAALGQIRSLLSVRMGKEEELLMINGLG	2045
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2153T	c.6458T>C	Putative Benign			SIFT: Polyphen:
p.M2153I	c.6459G>A	Putative Benign			SIFT: Polyphen: