Paralogue Annotation for RYR2 residue 101

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 101
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 101

No paralogue variants have been mapped to residue 101 for RYR2.

RYR2	QSLSVRALQEMLANTVEKSEGQVDVEKWKF>M<MKTAQGGGHRTLLYGHAILLRHSYSGMYLC	131
RYR1	QSLSVRALQEMLANTVEAG--V---E---->-<--SSQGGGHRTLLYGHAILLRHAHSRMYLS	118
RYR3	QSLSVRALQEMLANTGENG-GE---G---->-<--AAQGGGHRTLLYGHAVLLRHSFSGMYLT	121
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M101L	c.301A>T	Putative Benign			SIFT: Polyphen:
p.Met101Val	c.301A>G	Unknown			SIFT: Polyphen: