Paralogue Annotation for RYR1 residue 51

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 51
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 51

No paralogue variants have been mapped to residue 51 for RYR1.

RYR1	LQCSATVLKEQLKLCLAAEGFGNRLCFLEP>T<SNAQNVPPDLAICCFVLEQSLSVRALQEML	81
RYR2	LQCTATIHKEQQKLCLAAEGFGNRLCFLES>T<SNSKNVPPDLSICTFVLEQSLSVRALQEML	82
RYR3	LQCIATIHKEQRKFCLAAEGLGNRLCFLEP>T<SEAKYIPPDLCVCNFVLEQSLSVRALQEML	83
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T51N	c.152C>A	Other Myopathy		rs193922749	SIFT: Polyphen:
Reports		Other Myopathy		Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots. Anaesth Intensive Care. 2008 36(3):391-403. 18564801
p.T51I	c.152C>T	Putative Benign			SIFT: Polyphen: