Paralogue Annotation for RYR2 residue 49

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 49
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 49

No paralogue variants have been mapped to residue 49 for RYR2.

RYR2	EVVLQCTATIHKEQQKLCLAAEGFGNRLCF>L<ESTSNSKNVPPDLSICTFVLEQSLSVRALQ	79
RYR1	EVVLQCSATVLKEQLKLCLAAEGFGNRLCF>L<EPTSNAQNVPPDLAICCFVLEQSLSVRALQ	78
RYR3	EVVLQCIATIHKEQRKFCLAAEGLGNRLCF>L<EPTSEAKYIPPDLCVCNFVLEQSLSVRALQ	80
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Leu49Phe	c.147G>C	Unknown			SIFT: Polyphen: