Paralogue Annotation for RYR2 residue 46

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 46
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 46

No paralogue variants have been mapped to residue 46 for RYR2.

RYR2	TDDEVVLQCTATIHKEQQKLCLAAEGFGNR>L<CFLESTSNSKNVPPDLSICTFVLEQSLSVR	76
RYR1	TDDEVVLQCSATVLKEQLKLCLAAEGFGNR>L<CFLEPTSNAQNVPPDLAICCFVLEQSLSVR	75
RYR3	TEDEVVLQCIATIHKEQRKFCLAAEGLGNR>L<CFLEPTSEAKYIPPDLCVCNFVLEQSLSVR	77
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L46I	c.136C>A	Putative Benign		rs200643211	SIFT: tolerated Polyphen: probably damaging