Paralogue Annotation for RYR1 residue 4522

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4522
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4522

No paralogue variants have been mapped to residue 4522 for RYR1.

RYR1	EPEPEPELEPEKADAENGEKEEVPEPTPEP>P<KKQ---------APPSPPPKKEEAGGEFWG	4543
RYR2	EEKEETKSEPEKAEGEDGEKEEKAKEDKGK>Q<KLR--------QLHTHRYGEPEVPESAFWK	4482
RYR3	ANEAEGKVESEKADMEDGEKEDKDKEEEQA>E<YLWTEVTKKKKRRCGQKVEKPEAFTANFFK	4393
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P4522L	c.13565C>T	Putative Benign		rs145167688	SIFT: Polyphen:
p.P4522R	c.13565C>G	Putative Benign		rs145167688	SIFT: Polyphen: