Paralogue Annotation for RYR2 residue 3404

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3404
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3404

No paralogue variants have been mapped to residue 3404 for RYR2.

RYR2	IRFVDYNRAKWLKEPNPEAEELFRMVAEVF>I<YWSKSHNFKREEQNFVVQNEINNMSFLITD	3434
RYR1	IRYVDNNRAQWLTEPNPSAEELFRMVGEIF>I<YWSKSHNFKREEQNFVVQNEINNMSFLTAD	3473
RYR3	IRYVDNNRSNWLKSPDADSDQLFRMVAEVF>I<LWCKSHNFKREEQNFVIQNEINNLAFLTGD	3330
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3404V	c.10210A>G	Putative Benign			SIFT: Polyphen: