Paralogue Annotation for RYR1 residue 1814

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1814
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1814

No paralogue variants have been mapped to residue 1814 for RYR1.

RYR1	AALPAAGAAEAPARLSPAIPLEALRDKALR>M<LGEAVRDGGQHARDPVGGSVEFQFVPVLKL	1844
RYR2	SI------SNECYQYSPEFPLDILKSKTIQ>M<LTEAVKEGSLHARDPVGGTTEFLFVPLIKL	1824
RYR3	VT------GEDHQKQSPEIPLESLRTKALS>M<LTEAVQCSGAHIRDPVGGSVEFQFVPVLKL	1728
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M1814K	c.5441T>A	Other Myopathy		rs193922783	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943