Paralogue Annotation for RYR2 residue 1399

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1399
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1399

No paralogue variants have been mapped to residue 1399 for RYR2.

RYR2	---DYAQEKP-SR--LKQRFLLRRTKPDYS>T<SHSARLTEDVLADDRDDYDFLMQT-STYYY	1428
RYR1	NEKDATTEKNKKRGFLFKAKKVAMMTQPPA>T<PTLPRLPHDVVPADNRDDPEIILNTTTYYY	1434
RYR3	------------------------------>-<--SPCLDSEAFQKRKQMQEILSHTTTQCYY	1330
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1399K	c.4196C>A	Putative Benign		rs75901196	SIFT: tolerated Polyphen: benign