Paralogue Annotation for RYR2 residue 781

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 781
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 781

No paralogue variants have been mapped to residue 781 for RYR2.

RYR2	TDDVISCCLDLSAPSISFRINGQPVQGMFE>N<FNIDGLFFPVVSFSAGIKVRFLLGGRHGEF	811
RYR1	PEDVISCCLDLSVPSISFRINGCPVQGVFE>S<FNLDGLFFPVVSFSAGVKVRFLLGGRHGEF	799
RYR3	SDDVVSCCLDLGVPSISFRINGQPVQGMFE>N<FNTDGLFFPVMSFSAGVKVRFLMGGRHGEF	798
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N781S	c.2342A>G	Unknown			SIFT: Polyphen:
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510