Paralogue Annotation for RYR1 residue 1806

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1806
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1806

No paralogue variants have been mapped to residue 1806 for RYR1.

RYR1	HFSPPCFVAALPAAGAAEAPARLSPAIPLE>A<LRDKALRMLGEAVRDGGQHARDPVGGSVEF	1836
RYR2	QFSSPSFVSI------SNECYQYSPEFPLD>I<LKSKTIQMLTEAVKEGSLHARDPVGGTTEF	1816
RYR3	RFSTPCFVVT------GEDHQKQSPEIPLE>S<LRTKALSMLTEAVQCSGAHIRDPVGGSVEF	1720
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1806V	c.5417C>T	Putative Benign			SIFT: Polyphen: