Paralogue Annotation for RYR1 residue 4541

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4541
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4541

No paralogue variants have been mapped to residue 4541 for RYR1.

RYR1	EPPKKQ---------APPSPPPKKEEAGGE>F<WGELEVQRVKFLNYLSRNFYTLRFLALFLA	4571
RYR2	GKQKLR--------QLHTHRYGEPEVPESA>F<WKKIIAYQQKLLNYFARNFYNMRMLALFVA	4510
RYR3	QAEYLWTEVTKKKKRRCGQKVEKPEAFTAN>F<FKGLEIYQTKLLHYLARNFYNLRFLALFVA	4421
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4541L	c.13623C>G	Putative Benign			SIFT: Polyphen: