Paralogue Annotation for RYR2 residue 1214

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1214
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1214

No paralogue variants have been mapped to residue 1214 for RYR2.

RYR2	DDSGSELAFKDFDVGDGFIPVCSLGVAQVG>R<MNFGKDVSTLKYFTICGLQEGYEPFAVNTN	1244
RYR1	SDSGSETAFREIEIGDGFLPVCSLGPGQVG>H<LNLGQDVSSLRFFAICGLQEGFEPFAINMQ	1230
RYR3	TNKGSELAFADYEIENGFVPICCLGLSQIG>R<MNLGTDASTFKFYTMCGLQEGFEPFAVNMN	1230
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1214K	c.3641G>A	Putative Benign			SIFT: Polyphen: