Paralogue Annotation for RYR2 residue 295

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 295
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 295

No paralogue variants have been mapped to residue 295 for RYR2.

RYR2	GAVSVHARSLWRLETLRVAWSGSHIRWGQP>F<RLRHVTTGKYLSLMEDKNLLLMDKEKADVK	325
RYR1	GAVCTHARSLWRLEPLRISWSGSHLRWGQP>L<RVRHVTTGQYLALTEDQGLVVVDASKAHTK	309
RYR3	GGAGTRARSLWRVEPLRISWSGSNIRWGQA>F<RLRHLTTGHYLALTEDQGLILQDRAKSDTK	314
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F295S	c.884T>C	Putative Benign			SIFT: Polyphen: