Paralogue Annotation for RYR1 residue 4528

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4528
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4528

No paralogue variants have been mapped to residue 4528 for RYR1.

RYR1	ENGEKEEVPEPTPEPPKKQ---------AP>P<SPPPKKEEAGGEFWGELEVQRVKFLNYLSR	4558
RYR2	EDGEKEEKAKEDKGKQKLR--------QLH>T<HRYGEPEVPESAFWKKIIAYQQKLLNYFAR	4497
RYR3	EDGEKEDKDKEEEQAEYLWTEVTKKKKRRC>G<QKVEKPEAFTANFFKGLEIYQTKLLHYLAR	4408
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P4528S	c.13582C>T	Putative Benign			SIFT: Polyphen:
p.P4528L	c.13583C>T	Putative Benign			SIFT: Polyphen: