Paralogue Annotation for RYR1 residue 14

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 14
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 14

No paralogue variants have been mapped to residue 14 for RYR1.

RYR1	MGD-AE-GEDEVQFL>R<TDDEVVLQCSATVLKEQLKLCLAAEGFGNR	44
RYR2	MADGGE-GEDEIQFL>R<TDDEVVLQCTATIHKEQQKLCLAAEGFGNR	45
RYR3	MAEGGEGGEDEIQFL>R<TEDEVVLQCIATIHKEQRKFCLAAEGLGNR	46
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R14W	c.40C>T	Putative Benign		rs200665559	SIFT: Polyphen: probably damaging