Paralogue Annotation for RYR1 residue 41

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 41
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 41

No paralogue variants have been mapped to residue 41 for RYR1.

RYR1	QFLRTDDEVVLQCSATVLKEQLKLCLAAEG>F<GNRLCFLEPTSNAQNVPPDLAICCFVLEQS	71
RYR2	QFLRTDDEVVLQCTATIHKEQQKLCLAAEG>F<GNRLCFLESTSNSKNVPPDLSICTFVLEQS	72
RYR3	QFLRTEDEVVLQCIATIHKEQRKFCLAAEG>L<GNRLCFLEPTSEAKYIPPDLCVCNFVLEQS	73
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F41S	c.122T>C	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations. Arch Neurol. 2011 68(9):1171-9. 21911697