Paralogue Annotation for RYR2 residue 126

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 126
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 126

No paralogue variants have been mapped to residue 126 for RYR2.

RYR2	EKWKFMMKTAQGGGHRTLLYGHAILLRHSY>S<GMYLCCLSTSRSSTDKLAFDVGLQEDTTGE	156
RYR1	E-------SSQGGGHRTLLYGHAILLRHAH>S<RMYLSCLTTSRSMTDKLAFDVGLQEDATGE	143
RYR3	G-------AAQGGGHRTLLYGHAVLLRHSF>S<GMYLTCLTTSRSQTDKLAFDVGLREHATGE	146
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ser126Arg	c.378T>A	Unknown			SIFT: Polyphen: