Paralogue Annotation for RYR2 residue 1786

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1786
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1786

No paralogue variants have been mapped to residue 1786 for RYR2.

RYR2	QFSSPSFVSI------SNECYQYSPEFPLD>I<LKSKTIQMLTEAVKEGSLHARDPVGGTTEF	1816
RYR1	HFSPPCFVAALPAAGAAEAPARLSPAIPLE>A<LRDKALRMLGEAVRDGGQHARDPVGGSVEF	1836
RYR3	RFSTPCFVVT------GEDHQKQSPEIPLE>S<LRTKALSMLTEAVQCSGAHIRDPVGGSVEF	1720
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1786T	c.5357T>C	Putative Benign			SIFT: Polyphen: