Paralogue Annotation for RYR2 residue 279

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 279
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 279

No paralogue variants have been mapped to residue 279 for RYR2.

RYR2	SGEHGEEQRRTVHYEGGAVSVHARSLWRLE>T<LRVAWSGSHIRWGQPFRLRHVTTGKYLSLM	309
RYR1	PAD-SDDQRRLVYYEGGAVCTHARSLWRLE>P<LRISWSGSHLRWGQPLRVRHVTTGQYLALT	293
RYR3	STDQNDSQHRRIFYEAGGAGTRARSLWRVE>P<LRISWSGSNIRWGQAFRLRHLTTGHYLALT	298
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T279M	c.836C>T	Putative Benign			SIFT: tolerated Polyphen: possibly damaging