Paralogue Annotation for RYR1 residue 3520

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3520
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3520

No paralogue variants have been mapped to residue 3520 for RYR1.

RYR1	DQERTKKKRRGDRYSVQTSLIVATLKKMLP>I<GLNMCAPTDQDLITLAKTRYALKDTDEEVR	3550
RYR2	DQERKKMKRKGDRYSMQTSLIVAALKRLLP>I<GLNICAPGDQELIALAKNRFSLKDTEDEVR	3506
RYR3	DQERKKTKRRGDLYSIQTSLIVAALKKMLP>I<GLNMCTPGDQELISLAKSRYSHRDTDEEVR	3407
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3520V	c.10558A>G	Putative Benign			SIFT: Polyphen: