Paralogue Annotation for RYR2 residue 1124

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1124
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1124

No paralogue variants have been mapped to residue 1124 for RYR2.

RYR2	YAVKAGRWYFEFETVTAGDMRVGWSRPGCQ>P<DQELGSDERAFAFDGFKAQRWHQGNEHYGR	1154
RYR1	YTVQSGRWYFEFEAVTTGEMRVGWARPELR>P<DVELGADELAYVFNGHRGQRWHLGSEPFGR	1140
RYR3	YAVRSGKWYFEFEVVTGGDMRVGWARPGCR>P<DVELGADDQAFVFEGNRGQRWHQGSGYFGR	1140
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1124L	c.3371C>T	Putative Benign			SIFT: Polyphen: