Paralogue Annotation for RYR1 residue 2108

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2108
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2108

No paralogue variants have been mapped to residue 2108 for RYR1.

RYR1	EKPEEERSAEESKPRSLQELVSHMVVRWAQ>E<DFVQSPELVRAMFSLLHRQYDGLGELLRAL	2138
RYR2	A--EKPVESDSKKSSTLQQLISETMVRWAQ>E<SVIEDPELVRAMFVLLHRQYDGIGGLVRAL	2102
RYR3	K--EQPTEEEERCPTTLKELISQTMICWAQ>E<DQIQDSELVRMMFNLLRRQYDSIGELLQAL	2000
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2108A	c.6323A>C	Putative Benign			SIFT: Polyphen: