Paralogue Annotation for RYR1 residue 1215

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1215
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1215

No paralogue variants have been mapped to residue 1215 for RYR1.

RYR1	DGFLPVCSLGPGQVGHLNLGQDVSSLRFFA>I<CGLQEGFEPFAINMQRPVTTWFSKGLPQFE	1245
RYR2	DGFIPVCSLGVAQVGRMNFGKDVSTLKYFT>I<CGLQEGYEPFAVNTNRDITMWLSKRLPQFL	1259
RYR3	NGFVPICCLGLSQIGRMNLGTDASTFKFYT>M<CGLQEGFEPFAVNMNRDVAMWFSKRLPTFV	1245
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1215T	c.3644T>C	Putative Benign		rs141518670	SIFT: Polyphen: benign