Paralogue Annotation for RYR1 residue 116

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 116
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 116

No paralogue variants have been mapped to residue 116 for RYR1.

RYR1	-----SSQGGGHRTLLYGHAILLRHAHSRM>Y<LSCLTTSRSMTDKLAFDVGLQEDATGEACW	146
RYR2	KFMMKTAQGGGHRTLLYGHAILLRHSYSGM>Y<LCCLSTSRSSTDKLAFDVGLQEDTTGEACW	159
RYR3	-----AAQGGGHRTLLYGHAVLLRHSFSGM>Y<LTCLTTSRSQTDKLAFDVGLREHATGEACW	149
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y116C	c.347A>G	Putative Benign			SIFT: Polyphen: probably damaging