Paralogue Annotation for RYR1 residue 1216

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1216
Reference Amino Acid: C - Cysteine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1216

No paralogue variants have been mapped to residue 1216 for RYR1.

RYR1	GFLPVCSLGPGQVGHLNLGQDVSSLRFFAI>C<GLQEGFEPFAINMQRPVTTWFSKGLPQFEP	1246
RYR2	GFIPVCSLGVAQVGRMNFGKDVSTLKYFTI>C<GLQEGYEPFAVNTNRDITMWLSKRLPQFLQ	1260
RYR3	GFVPICCLGLSQIGRMNLGTDASTFKFYTM>C<GLQEGFEPFAVNMNRDVAMWFSKRLPTFVN	1246
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C1216G	c.3646T>G	Putative Benign			SIFT: Polyphen: