Paralogue Annotation for RYR1 residue 2712

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2712
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2712

No paralogue variants have been mapped to residue 2712 for RYR1.

RYR1	IFDSLAHKKYDPELYRMAMPCLCAIAGALP>P<DYVDASYSSKAEKKATVDAEGNFDPRPVET	2742
RYR2	IFDALSQKKYEQELFKLALPCLSAVAGALP>P<DYMESNYVSMMEKQSSMDSEGNFNPQPVDT	2708
RYR3	IFDSLSHKKYDPDLFRMALPCLSAIAGALP>P<DYLDTRITATLEKQISVDADGNFDPKPINT	2605
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2712S	c.8134C>T	Putative Benign		rs267605464	SIFT: deleterious Polyphen: benign