Paralogue Annotation for RYR1 residue 2275

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2275
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2275

No paralogue variants have been mapped to residue 2275 for RYR1.

RYR1	RSMFDHLSYLLENSGIG--L-GMQGSTPLD>V<AAASVIDNNELALALQEQDLEKVVSYLAGC	2305
RYR2	KAMFDHLSYLLENSSVGLASPAMRGSTPLD>V<AAASVMDNNELALALREPDLEKVVRYLAGC	2272
RYR3	KAMFEHLSYLLENSSVGLASPSMRGSTPLD>V<AASSVMDNNELALSLEEPDLEKVVTYLAGC	2169
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2275M	c.6823G>A	Putative Benign			SIFT: Polyphen: