Paralogue Annotation for RYR1 residue 559

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 559
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 559

No paralogue variants have been mapped to residue 559 for RYR1.

RYR1	IRGNRSNCALFSTNLDWLVSKLDRLEASSG>I<LEVLYCVLIESPEVLNIIQENHIKSIISLL	589
RYR2	IRGNRKNCAQFSGSLDWLISRLERLEASSG>I<LEVLHCVLVESPEALNIIKEGHIKSIISLL	601
RYR3	IRGNRNNCAQFSNNLDWLISKLDRLESSSG>I<LEVLHCILTESPEALNLIAEGHIKSIISLL	588
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I559V	c.1675A>G	Putative Benign			SIFT: Polyphen: