Paralogue Annotation for RYR1 residue 312

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 312
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 312

No paralogue variants have been mapped to residue 312 for RYR1.

RYR1	RHVTTGQYLALTEDQGLVVVDASKAHTKAT>S<FCFRI---SKEKLDVAPKRDVEGMGPPEIK	339
RYR2	RHVTTGKYLSLMEDKNLLLMDKEKADVKST>A<FTFRS---SKEKLDVGVRKEVDGMGTSEIK	355
RYR3	RHLTTGHYLALTEDQGLILQDRAKSDTKST>A<FSFRASKELKEKLDSSHKRDIEGMGVPEIK	347
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S312P	c.934T>C	Putative Benign			SIFT: Polyphen: