Paralogue Annotation for RYR1 residue 3481

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3481
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3481

No paralogue variants have been mapped to residue 3481 for RYR1.

RYR1	FKREEQNFVVQNEINNMSFLTADNKSKMAK>A<GDIQSGGSDQERTKKKRRGDRYSVQTSLIV	3511
RYR2	FKREEQNFVVQNEINNMSFLITDTKSKMSK>A<A-----VSDQERKKMKRKGDRYSMQTSLIV	3467
RYR3	FKREEQNFVIQNEINNLAFLTGDSKSKMSK>A<MQVKSGGQDQERKKTKRRGDLYSIQTSLIV	3368
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3481V	c.10442C>T	Putative Benign		rs370630840	SIFT: tolerated Polyphen: benign