Paralogue Annotation for RYR2 residue 333

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 333
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 333

No paralogue variants have been mapped to residue 333 for RYR2.

RYR2	GKYLSLMEDKNLLLMDKEKADVKSTAFTFR>S<---SKEKLDVGVRKEVDGMGTSEIKYGDSV	360
RYR1	GQYLALTEDQGLVVVDASKAHTKATSFCFR>I<---SKEKLDVAPKRDVEGMGPPEIKYGESL	344
RYR3	GHYLALTEDQGLILQDRAKSDTKSTAFSFR>A<SKELKEKLDSSHKRDIEGMGVPEIKYGDSV	352
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S333F	c.998C>T	Putative Benign			SIFT: Polyphen: