Paralogue Annotation for RYR2 residue 1397

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1397
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1397

No paralogue variants have been mapped to residue 1397 for RYR2.

RYR2	-----DYAQEKP-SR--LKQRFLLRRTKPD>Y<STSHSARLTEDVLADDRDDYDFLMQT-STY	1426
RYR1	AENEKDATTEKNKKRGFLFKAKKVAMMTQP>P<ATPTLPRLPHDVVPADNRDDPEIILNTTTY	1432
RYR3	------------------------------>-<----SPCLDSEAFQKRKQMQEILSHTTTQC	1328
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1397N	c.4189T>A	Putative Benign			SIFT: Polyphen: