Paralogue Annotation for RYR1 residue 3165

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3165
Reference Amino Acid: C - Cysteine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3165

No paralogue variants have been mapped to residue 3165 for RYR1.

RYR1	ALLPVLTTLFQHIAQHQFGDDVILDDVQVS>C<YRTLCSIYSLGTTKNTYVEKLRPALGECLA	3195
RYR2	ALLPMLSSLFEHIGQHQFGEDLILEDVQVS>C<YRILTSLYALGTSKSIYVERQRSALGECLA	3160
RYR3	ALLPILTSIFEHVTQHQFGMDLLLGDVQIS>C<YHILCSLYSLGTGKNIYVERQRPALGECLA	3056
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C3165Y	c.9494G>A	Putative Benign			SIFT: Polyphen: