Paralogue Annotation for RYR2 residue 138

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 138
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 138

No paralogue variants have been mapped to residue 138 for RYR2.

RYR2	GGHRTLLYGHAILLRHSYSGMYLCCLSTSR>S<STDKLAFDVGLQEDTTGEACWWTIHPASKQ	168
RYR1	GGHRTLLYGHAILLRHAHSRMYLSCLTTSR>S<MTDKLAFDVGLQEDATGEACWWTMHPASKQ	155
RYR3	GGHRTLLYGHAVLLRHSFSGMYLTCLTTSR>S<QTDKLAFDVGLREHATGEACWWTIHPASKQ	158
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S138A	c.412T>G	Putative Benign			SIFT: Polyphen: