Paralogue Annotation for RYR1 residue 118

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 118
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 118

No paralogue variants have been mapped to residue 118 for RYR1.

RYR1	---SSQGGGHRTLLYGHAILLRHAHSRMYL>S<CLTTSRSMTDKLAFDVGLQEDATGEACWWT	148
RYR2	MMKTAQGGGHRTLLYGHAILLRHSYSGMYL>C<CLSTSRSSTDKLAFDVGLQEDTTGEACWWT	161
RYR3	---AAQGGGHRTLLYGHAVLLRHSFSGMYL>T<CLTTSRSQTDKLAFDVGLREHATGEACWWT	151
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S118N	c.353G>A	Putative Benign			SIFT: Polyphen: