Paralogue Annotation for RYR2 residue 1224

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1224
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1224

No paralogue variants have been mapped to residue 1224 for RYR2.

RYR2	DFDVGDGFIPVCSLGVAQVGRMNFGKDVST>L<KYFTICGLQEGYEPFAVNTNRDITMWLSKR	1254
RYR1	EIEIGDGFLPVCSLGPGQVGHLNLGQDVSS>L<RFFAICGLQEGFEPFAINMQRPVTTWFSKG	1240
RYR3	DYEIENGFVPICCLGLSQIGRMNLGTDAST>F<KFYTMCGLQEGFEPFAVNMNRDVAMWFSKR	1240
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1224S	c.3671T>C	Putative Benign			SIFT: Polyphen: