Paralogue Annotation for RYR2 residue 1417

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1417
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1417

No paralogue variants have been mapped to residue 1417 for RYR2.

RYR2	RFLLRRTKPDYSTSHSARLTEDVLADDRDD>Y<DFLMQT-STYYYSVRIFPGQEPANVWVGWI	1446
RYR1	AKKVAMMTQPPATPTLPRLPHDVVPADNRD>D<PEIILNTTTYYYSVRVFAGQEPSCVWAGWV	1452
RYR3	---------------SPCLDSEAFQKRKQM>Q<EILSHTTTQCYYAIRIFAGQDPSCVWVGWV	1348
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1417C	c.4250A>G	Putative Benign			SIFT: Polyphen: