Paralogue Annotation for RYR1 residue 1808

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1808
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1808

No paralogue variants have been mapped to residue 1808 for RYR1.

RYR1	SPPCFVAALPAAGAAEAPARLSPAIPLEAL>R<DKALRMLGEAVRDGGQHARDPVGGSVEFQF	1838
RYR2	SSPSFVSI------SNECYQYSPEFPLDIL>K<SKTIQMLTEAVKEGSLHARDPVGGTTEFLF	1818
RYR3	STPCFVVT------GEDHQKQSPEIPLESL>R<TKALSMLTEAVQCSGAHIRDPVGGSVEFQF	1722
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1808W	c.5422C>T	Putative Benign			SIFT: Polyphen:
p.R1808Q	c.5423G>A	Putative Benign			SIFT: Polyphen: