Paralogue Annotation for RYR2 residue 48

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 48
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 48

No paralogue variants have been mapped to residue 48 for RYR2.

RYR2	DEVVLQCTATIHKEQQKLCLAAEGFGNRLC>F<LESTSNSKNVPPDLSICTFVLEQSLSVRAL	78
RYR1	DEVVLQCSATVLKEQLKLCLAAEGFGNRLC>F<LEPTSNAQNVPPDLAICCFVLEQSLSVRAL	77
RYR3	DEVVLQCIATIHKEQRKFCLAAEGLGNRLC>F<LEPTSEAKYIPPDLCVCNFVLEQSLSVRAL	79
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F48S	c.143T>C	Putative Benign			SIFT: Polyphen: