Paralogue Annotation for RYR2 residue 1830

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1830
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1830

No paralogue variants have been mapped to residue 1830 for RYR2.

RYR2	KEGSLHARDPVGGTTEFLFVPLIKLFYTLL>I<MGIFHNEDLKHILQLIEPSVFKEAATPEEE	1860
RYR1	RDGGQHARDPVGGSVEFQFVPVLKLVSTLL>V<MGIFGDEDVKQILKMIEPEVFTEEEEEEDE	1880
RYR3	QCSGAHIRDPVGGSVEFQFVPVLKLIGTLL>V<MGVFDDDDVRQILLLIDPSVFGEHSAGTEE	1764
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1830V	c.5488A>G	Putative Benign			SIFT: Polyphen: