Paralogue Annotation for RYR1 residue 1117

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1117
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1117

No paralogue variants have been mapped to residue 1117 for RYR1.

RYR1	WYFEFEAVTTGEMRVGWARPELRPDVELGA>D<ELAYVFNGHRGQRWHLGSEPFGRPWQPGDV	1147
RYR2	WYFEFETVTAGDMRVGWSRPGCQPDQELGS>D<ERAFAFDGFKAQRWHQGNEHYGRSWQAGDV	1161
RYR3	WYFEFEVVTGGDMRVGWARPGCRPDVELGA>D<DQAFVFEGNRGQRWHQGSGYFGRTWQPGDV	1147
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1117Y	c.3349G>T	Putative Benign			SIFT: Polyphen: