Paralogue Annotation for RYR1 residue 1449

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1449
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1449

No paralogue variants have been mapped to residue 1449 for RYR1.

RYR1	NRDDPEIILNTTTYYYSVRVFAGQEPSCVW>A<GWVTPDYHQHDMSFDLSKVRVVTVTMGDEQ	1479
RYR2	RDDYDFLMQT-STYYYSVRIFPGQEPANVW>V<GWITSDFHQYDTGFDLDRVRTVTVTLGDEK	1473
RYR3	KQMQEILSHTTTQCYYAIRIFAGQDPSCVW>V<GWVTPDYHLYSEKFDLNKNCTVTVTLGDER	1375
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1449V	c.4346C>T	Putative Benign			SIFT: Polyphen: