Paralogue Annotation for RYR2 residue 1226

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1226
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1226

No paralogue variants have been mapped to residue 1226 for RYR2.

RYR2	DVGDGFIPVCSLGVAQVGRMNFGKDVSTLK>Y<FTICGLQEGYEPFAVNTNRDITMWLSKRLP	1256
RYR1	EIGDGFLPVCSLGPGQVGHLNLGQDVSSLR>F<FAICGLQEGFEPFAINMQRPVTTWFSKGLP	1242
RYR3	EIENGFVPICCLGLSQIGRMNLGTDASTFK>F<YTMCGLQEGFEPFAVNMNRDVAMWFSKRLP	1242
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1226C	c.3677A>G	Putative Benign		rs371124046	SIFT: deleterious Polyphen: possibly damaging