Paralogue Annotation for RYR1 residue 1218

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1218
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1218

No paralogue variants have been mapped to residue 1218 for RYR1.

RYR1	LPVCSLGPGQVGHLNLGQDVSSLRFFAICG>L<QEGFEPFAINMQRPVTTWFSKGLPQFEPVP	1248
RYR2	IPVCSLGVAQVGRMNFGKDVSTLKYFTICG>L<QEGYEPFAVNTNRDITMWLSKRLPQFLQVP	1262
RYR3	VPICCLGLSQIGRMNLGTDASTFKFYTMCG>L<QEGFEPFAVNMNRDVAMWFSKRLPTFVNVP	1248
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1218F	c.3652C>T	Putative Benign			SIFT: Polyphen: