Paralogue Annotation for RYR1 residue 2613

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2613
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2613

No paralogue variants have been mapped to residue 2613 for RYR1.

RYR1	LHTVYRLSRGRSLTKAQRDVIEDCLMSLCR>Y<IRPSMLQHLLRRLVFDVPILNEFAKMPLKL	2643
RYR2	LHTVYRLSKGCSLTKAQRDSIEVCLLSICG>Q<LRPSMMQHLLRRLVFDVPLLNEHAKMPLKL	2609
RYR3	LQTIYRLSKGRSLTKAQRDTIEECLLAICN>H<LRPSMLQQLLRRLVFDVPQLNEYCKMPLKL	2506
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y2613S	c.7838A>C	Putative Benign			SIFT: Polyphen: