Paralogue Annotation for RYR1 residue 54

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 54
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 54

No paralogue variants have been mapped to residue 54 for RYR1.

RYR1	SATVLKEQLKLCLAAEGFGNRLCFLEPTSN>A<QNVPPDLAICCFVLEQSLSVRALQEMLANT	84
RYR2	TATIHKEQQKLCLAAEGFGNRLCFLESTSN>S<KNVPPDLSICTFVLEQSLSVRALQEMLANT	85
RYR3	IATIHKEQRKFCLAAEGLGNRLCFLEPTSE>A<KYIPPDLCVCNFVLEQSLSVRALQEMLANT	86
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A54T	c.160G>A	Putative Benign			SIFT: Polyphen: