Paralogue Annotation for RYR1 residue 102

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 102
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 102

No paralogue variants have been mapped to residue 102 for RYR1.

RYR1	TVEAG--V---E-------SSQGGGHRTLL>Y<GHAILLRHAHSRMYLSCLTTSRSMTDKLAF	132
RYR2	TVEKSEGQVDVEKWKFMMKTAQGGGHRTLL>Y<GHAILLRHSYSGMYLCCLSTSRSSTDKLAF	145
RYR3	TGENG-GE---G-------AAQGGGHRTLL>Y<GHAVLLRHSFSGMYLTCLTTSRSQTDKLAF	135
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y102C	c.305A>G	Putative Benign			SIFT: Polyphen: