Paralogue Annotation for RYR1 residue 2727

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2727
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2727

No paralogue variants have been mapped to residue 2727 for RYR1.

RYR1	RMAMPCLCAIAGALPPDYVDASYSSKAEKK>A<TVDAEGNFDPRPVETLNVIIPEKLDSFINK	2757
RYR2	KLALPCLSAVAGALPPDYMESNYVSMMEKQ>S<SMDSEGNFNPQPVDTSNITIPEKLEYFINK	2723
RYR3	RMALPCLSAIAGALPPDYLDTRITATLEKQ>I<SVDADGNFDPKPINTMNFSLPEKLEYIVTK	2620
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2727T	c.8179G>A	Putative Benign			SIFT: Polyphen:
p.A2727V	c.8180C>T	Putative Benign			SIFT: Polyphen: