Paralogue Annotation for RYR2 residue 1438

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1438
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1438

No paralogue variants have been mapped to residue 1438 for RYR2.

RYR2	VLADDRDDYDFLMQT-STYYYSVRIFPGQE>P<ANVWVGWITSDFHQYDTGFDLDRVRTVTVT	1468
RYR1	VVPADNRDDPEIILNTTTYYYSVRVFAGQE>P<SCVWAGWVTPDYHQHDMSFDLSKVRVVTVT	1474
RYR3	AFQKRKQMQEILSHTTTQCYYAIRIFAGQD>P<SCVWVGWVTPDYHLYSEKFDLNKNCTVTVT	1370
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1438H	c.4313C>A	Putative Benign			SIFT: Polyphen: