Paralogue Annotation for RYR1 residue 99

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 99
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 99

No paralogue variants have been mapped to residue 99 for RYR1.

RYR1	LANTVEAG--V---E-------SSQGGGHR>T<LLYGHAILLRHAHSRMYLSCLTTSRSMTDK	129
RYR2	LANTVEKSEGQVDVEKWKFMMKTAQGGGHR>T<LLYGHAILLRHSYSGMYLCCLSTSRSSTDK	142
RYR3	LANTGENG-GE---G-------AAQGGGHR>T<LLYGHAVLLRHSFSGMYLTCLTTSRSQTDK	132
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T99M	c.296C>T	Putative Benign		rs371406719	SIFT: deleterious Polyphen: probably damaging