Paralogue Annotation for RYR2 residue 3332

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3332
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3332

No paralogue variants have been mapped to residue 3332 for RYR2.

RYR2	FSQPIINKVKPQLLKTHFLPLMEKLKKKAA>T<VVSEEDHLKAEARGDMSEAELLILDEFTTL	3362
RYR1	FAQPIVSRARPELLQSHFIPTIGRLRKRAG>K<VVSEEEQLRLEAKAEAQEGELLVRDEFSVL	3401
RYR3	YAQPIISKARPDLLRSHFIPTLEKLKKKAV>K<TVQEEEQLKADGKGDTQEAELLILDEFAVL	3258
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3332M	c.9995C>T	Putative Benign			SIFT: Polyphen: