Paralogue Annotation for RYR2 residue 3112

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3112
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3112

No paralogue variants have been mapped to residue 3112 for RYR2.

RYR2	HTRNQPKGVTQIINYTTVALLPMLSSLFEH>I<GQHQFGEDLILEDVQVSCYRILTSLYALGT	3142
RYR1	QARTQVKGVGQNLTYTTVALLPVLTTLFQH>I<AQHQFGDDVILDDVQVSCYRTLCSIYSLGT	3177
RYR3	HSRTQIKGVSQNINYTTVALLPILTSIFEH>V<TQHQFGMDLLLGDVQISCYHILCSLYSLGT	3038
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3112T	c.9335T>C	Putative Benign			SIFT: Polyphen:
p.I3112M	c.9336T>G	Putative Benign			SIFT: Polyphen: