Paralogue Annotation for RYR1 residue 4567

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4567
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4567

No paralogue variants have been mapped to residue 4567 for RYR1.

RYR1	AGGEFWGELEVQRVKFLNYLSRNFYTLRFL>A<LFLAFAINFILLFYKVSDSPPGEDDMEGSA	4597
RYR2	PESAFWKKIIAYQQKLLNYFARNFYNMRML>A<LFVAFAINFILLFYKVSTSSVVEGKE----	4532
RYR3	FTANFFKGLEIYQTKLLHYLARNFYNLRFL>A<LFVAFAINFILLFYKVTEEPLEEETE----	4443
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4567T	c.13699G>A	Putative Benign		rs371441593	SIFT: tolerated Polyphen: possibly damaging
p.Ala4567Ser	c.13699G>T	Unknown			SIFT: Polyphen: