Paralogue Annotation for RYR1 residue 2713

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2713
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2713

No paralogue variants have been mapped to residue 2713 for RYR1.

RYR1	FDSLAHKKYDPELYRMAMPCLCAIAGALPP>D<YVDASYSSKAEKKATVDAEGNFDPRPVETL	2743
RYR2	FDALSQKKYEQELFKLALPCLSAVAGALPP>D<YMESNYVSMMEKQSSMDSEGNFNPQPVDTS	2709
RYR3	FDSLSHKKYDPDLFRMALPCLSAIAGALPP>D<YLDTRITATLEKQISVDADGNFDPKPINTM	2606
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2713N	c.8137G>A	Putative Benign			SIFT: Polyphen: