Paralogue Annotation for RYR1 residue 3347

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3347
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3347

No paralogue variants have been mapped to residue 3347 for RYR1.

RYR1	GNILRIIVNNLGIDEASWMKRLAVFAQPIV>S<RARPELLQSHFIPTIGRLRKRAGKVVSEEE	3377
RYR2	GNILKIIYNNLGIDEGAWMKRLAVFSQPII>N<KVKPQLLKTHFLPLMEKLKKKAATVVSEED	3338
RYR3	GNILKIINNNLGIDEASWMKRIAVYAQPII>S<KARPDLLRSHFIPTLEKLKKKAVKTVQEEE	3234
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3347C	c.10039A>T	Putative Benign			SIFT: Polyphen: