Paralogue Annotation for RYR1 residue 4530

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4530
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4530

No paralogue variants have been mapped to residue 4530 for RYR1.

RYR1	GEKEEVPEPTPEPPKKQ---------APPS>P<PPKKEEAGGEFWGELEVQRVKFLNYLSRNF	4560
RYR2	GEKEEKAKEDKGKQKLR--------QLHTH>R<YGEPEVPESAFWKKIIAYQQKLLNYFARNF	4499
RYR3	GEKEDKDKEEEQAEYLWTEVTKKKKRRCGQ>K<VEKPEAFTANFFKGLEIYQTKLLHYLARNF	4410
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P4530S	c.13588C>T	Putative Benign			SIFT: Polyphen:
p.P4530L	c.13589C>T	Putative Benign			SIFT: Polyphen: