Paralogue Annotation for RYR2 residue 3407

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3407
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3407

No paralogue variants have been mapped to residue 3407 for RYR2.

RYR2	VDYNRAKWLKEPNPEAEELFRMVAEVFIYW>S<KSHNFKREEQNFVVQNEINNMSFLITDTKS	3437
RYR1	VDNNRAQWLTEPNPSAEELFRMVGEIFIYW>S<KSHNFKREEQNFVVQNEINNMSFLTADNKS	3476
RYR3	VDNNRSNWLKSPDADSDQLFRMVAEVFILW>C<KSHNFKREEQNFVIQNEINNLAFLTGDSKS	3333
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3407L	c.10220C>T	Putative Benign			SIFT: Polyphen: