Paralogue Annotation for RYR2 residue 2851

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2851
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2851

No paralogue variants have been mapped to residue 2851 for RYR2.

RYR2	YSPRAIDMSNVTLSRDLHAMAEMMAENYHN>I<WAKKKKMELESKGGGNHPLLVPYDTLTAKE	2881
RYR1	YNPQPPDLSAVTLSRELQAMAEQLAENYHN>T<WGRKKKQELEAKGGGTHPLLVPYDTLTAKE	2915
RYR3	YSPAPLDLSNVVLSRELQGMVEVVAENYHN>I<WAKKKKLELESKGGGSHPLLVPYDTLTAKE	2776
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2851T	c.8552T>C	Putative Benign		rs374327388	SIFT: tolerated Polyphen: benign