Paralogue Annotation for RYR1 residue 3756

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3756
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3756

No paralogue variants have been mapped to residue 3756 for RYR1.

RYR1	ADIMAKSCHLEEGGENGEAEEEVEVSFEEK>Q<MEKQRLLYQQARLHTRGAAEMVLQMISACK	3786
RYR2	ADIMAKSCHDEED-D--DGEEE-VKSFEEK>E<MEKQKLLYQQARLHDRGAAEMVLQTISASK	3748
RYR3	SSMMAKSCQSGED-E--EEDEDKEKTFEEK>E<MEKQKTLYQQARLHERGAAEMVLQMISASK	3638
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q3756E	c.11266C>G	Benign		rs4802584	SIFT: Polyphen: benign