Paralogue Annotation for RYR1 residue 2120

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2120
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2120

No paralogue variants have been mapped to residue 2120 for RYR1.

RYR1	KPRSLQELVSHMVVRWAQEDFVQSPELVRA>M<FSLLHRQYDGLGELLRALPRAYTISPSSVE	2150
RYR2	KSSTLQQLISETMVRWAQESVIEDPELVRA>M<FVLLHRQYDGIGGLVRALPKTYTINGVSVE	2114
RYR3	CPTTLKELISQTMICWAQEDQIQDSELVRM>M<FNLLRRQYDSIGELLQALRKTYTISHTSVS	2012
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2120V	c.6358A>G	Putative Benign			SIFT: Polyphen:
p.M2120T	c.6359T>C	Putative Benign			SIFT: Polyphen: