Paralogue Annotation for RYR2 residue 280

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 280
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 280

No paralogue variants have been mapped to residue 280 for RYR2.

RYR2	GEHGEEQRRTVHYEGGAVSVHARSLWRLET>L<RVAWSGSHIRWGQPFRLRHVTTGKYLSLME	310
RYR1	AD-SDDQRRLVYYEGGAVCTHARSLWRLEP>L<RISWSGSHLRWGQPLRVRHVTTGQYLALTE	294
RYR3	TDQNDSQHRRIFYEAGGAGTRARSLWRVEP>L<RISWSGSNIRWGQAFRLRHLTTGHYLALTE	299
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Leu280Pro	c.839T>C	Unknown			SIFT: Polyphen: