Paralogue Annotation for RYR1 residue 1803

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1803
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1803

No paralogue variants have been mapped to residue 1803 for RYR1.

RYR1	PPHHFSPPCFVAALPAAGAAEAPARLSPAI>P<LEALRDKALRMLGEAVRDGGQHARDPVGGS	1833
RYR2	PRMQFSSPSFVSI------SNECYQYSPEF>P<LDILKSKTIQMLTEAVKEGSLHARDPVGGT	1813
RYR3	PGFRFSTPCFVVT------GEDHQKQSPEI>P<LESLRTKALSMLTEAVQCSGAHIRDPVGGS	1717
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1803L	c.5408C>T	Putative Benign			SIFT: Polyphen: