Paralogue Annotation for RYR2 residue 3094

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3094
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3094

No paralogue variants have been mapped to residue 3094 for RYR2.

RYR2	AAEDLEKTMENLKQGQFTHTRNQPKGVTQI>I<NYTTVALLPMLSSLFEHIGQHQFGEDLILE	3124
RYR1	ASEDIEKMVENLRLGKVSQARTQVKGVGQN>L<TYTTVALLPVLTTLFQHIAQHQFGDDVILD	3159
RYR3	AAEDLEKTSENLKLGKFTHSRTQIKGVSQN>I<NYTTVALLPILTSIFEHVTQHQFGMDLLLG	3020
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3094V	c.9280A>G	Putative Benign			SIFT: Polyphen: