Paralogue Annotation for RYR2 residue 134

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 134
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 134

No paralogue variants have been mapped to residue 134 for RYR2.

RYR2	TAQGGGHRTLLYGHAILLRHSYSGMYLCCL>S<TSRSSTDKLAFDVGLQEDTTGEACWWTIHP	164
RYR1	SSQGGGHRTLLYGHAILLRHAHSRMYLSCL>T<TSRSMTDKLAFDVGLQEDATGEACWWTMHP	151
RYR3	AAQGGGHRTLLYGHAVLLRHSFSGMYLTCL>T<TSRSQTDKLAFDVGLREHATGEACWWTIHP	154
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S134C	c.401C>G	Putative Benign			SIFT: Polyphen: