Paralogue Annotation for RYR2 residue 1795

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1795
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1795

No paralogue variants have been mapped to residue 1795 for RYR2.

RYR2	I------SNECYQYSPEFPLDILKSKTIQM>L<TEAVKEGSLHARDPVGGTTEFLFVPLIKLF	1825
RYR1	ALPAAGAAEAPARLSPAIPLEALRDKALRM>L<GEAVRDGGQHARDPVGGSVEFQFVPVLKLV	1845
RYR3	T------GEDHQKQSPEIPLESLRTKALSM>L<TEAVQCSGAHIRDPVGGSVEFQFVPVLKLI	1729
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1795M	c.5383C>A	Putative Benign			SIFT: Polyphen: