Paralogue Annotation for RYR1 residue 1124

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1124
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1124

No paralogue variants have been mapped to residue 1124 for RYR1.

RYR1	VTTGEMRVGWARPELRPDVELGADELAYVF>N<GHRGQRWHLGSEPFGRPWQPGDVVGCMIDL	1154
RYR2	VTAGDMRVGWSRPGCQPDQELGSDERAFAF>D<GFKAQRWHQGNEHYGRSWQAGDVVGCMVDM	1168
RYR3	VTGGDMRVGWARPGCRPDVELGADDQAFVF>E<GNRGQRWHQGSGYFGRTWQPGDVVGCMINL	1154
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1124S	c.3371A>G	Putative Benign		rs377285238	SIFT: deleterious Polyphen: probably damaging