Paralogue Annotation for RYR2 residue 1235

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1235
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1235

No paralogue variants have been mapped to residue 1235 for RYR2.

RYR2	CSLGVAQVGRMNFGKDVSTLKYFTICGLQE>G<YEPFAVNTNRDITMWLSKRLPQFLQVPSNH	1265
RYR1	CSLGPGQVGHLNLGQDVSSLRFFAICGLQE>G<FEPFAINMQRPVTTWFSKGLPQFEPVPLEH	1251
RYR3	CCLGLSQIGRMNLGTDASTFKFYTMCGLQE>G<FEPFAVNMNRDVAMWFSKRLPTFVNVPKDH	1251
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1235D	c.3704G>A	Putative Benign			SIFT: Polyphen: