Paralogue Annotation for RYR1 residue 38

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 38
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 38

No paralogue variants have been mapped to residue 38 for RYR1.

RYR1	DEVQFLRTDDEVVLQCSATVLKEQLKLCLA>A<EGFGNRLCFLEPTSNAQNVPPDLAICCFVL	68
RYR2	DEIQFLRTDDEVVLQCTATIHKEQQKLCLA>A<EGFGNRLCFLESTSNSKNVPPDLSICTFVL	69
RYR3	DEIQFLRTEDEVVLQCIATIHKEQRKFCLA>A<EGLGNRLCFLEPTSEAKYIPPDLCVCNFVL	70
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A38S	c.112G>T	Putative Benign		rs377558801	SIFT: deleterious Polyphen: probably damaging
p.A38T	c.112G>A	Putative Benign			SIFT: Polyphen: