Paralogue Annotation for RYR2 residue 1382

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1382
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1382

No paralogue variants have been mapped to residue 1382 for RYR2.

RYR2	KPEFNNHK--------------DYAQEKP->S<R--LKQRFLLRRTKPDYSTSHSARLTEDVL	1410
RYR1	GAPGGTPQAGGEAQPARAENEKDATTEKNK>K<RGFLFKAKKVAMMTQPPATPTLPRLPHDVV	1415
RYR3	------------------------------>-<---------------------SPCLDSEAF	1311
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1382C	c.4145C>G	Putative Benign			SIFT: Polyphen: