Paralogue Annotation for RYR2 residue 3122

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3122
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3122

No paralogue variants have been mapped to residue 3122 for RYR2.

RYR2	QIINYTTVALLPMLSSLFEHIGQHQFGEDL>I<LEDVQVSCYRILTSLYALGTSKSIYVERQR	3152
RYR1	QNLTYTTVALLPVLTTLFQHIAQHQFGDDV>I<LDDVQVSCYRTLCSIYSLGTTKNTYVEKLR	3187
RYR3	QNINYTTVALLPILTSIFEHVTQHQFGMDL>L<LGDVQISCYHILCSLYSLGTGKNIYVERQR	3048
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3122L	c.9364A>C	Putative Benign			SIFT: Polyphen: