Paralogue Annotation for RYR2 residue 2582

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2582
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2582

No paralogue variants have been mapped to residue 2582 for RYR2.

RYR2	VYRLSKGCSLTKAQRDSIEVCLLSICGQLR>P<SMMQHLLRRLVFDVPLLNEHAKMPLKLLTN	2612
RYR1	VYRLSRGRSLTKAQRDVIEDCLMSLCRYIR>P<SMLQHLLRRLVFDVPILNEFAKMPLKLLTN	2646
RYR3	IYRLSKGRSLTKAQRDTIEECLLAICNHLR>P<SMLQQLLRRLVFDVPQLNEYCKMPLKLLTN	2509
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2582T	c.7744C>A	Putative Benign			SIFT: Polyphen: