Paralogue Annotation for RYR1 residue 304

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 304
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 304

No paralogue variants have been mapped to residue 304 for RYR1.

RYR1	RWGQPLRVRHVTTGQYLALTEDQGLVVVDA>S<KAHTKATSFCFRI---SKEKLDVAPKRDVE	331
RYR2	RWGQPFRLRHVTTGKYLSLMEDKNLLLMDK>E<KADVKSTAFTFRS---SKEKLDVGVRKEVD	347
RYR3	RWGQAFRLRHLTTGHYLALTEDQGLILQDR>A<KSDTKSTAFSFRASKELKEKLDSSHKRDIE	339
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S304N	c.911G>A	Putative Benign		rs368379696	SIFT: tolerated Polyphen: possibly damaging