Paralogue Annotation for RYR1 residue 999

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 999
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 999

No paralogue variants have been mapped to residue 999 for RYR1.

RYR1	LDLSHVRLTPAQTTLVDRLAENGHNVWARD>R<VGQGWSYSAVQDIPARRNPRLVPYRLLDEA	1029
RYR2	MDLSFIKLTPSQEAMVDKLAENAHNVWARD>R<IRQGWTYGIQQDVKNRRNPRLVPYTLLDDR	1041
RYR3	LDLSDVKLLPPQEILVDKLAENAHNVWAKD>R<IKQGWTYGIQQDLKNKRNPRLVPYALLDER	1028
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R999C	c.2995C>T	Putative Benign		rs150442096	SIFT: Polyphen: probably damaging
p.R999H	c.2996G>A	Putative Benign		rs180714609	SIFT: Polyphen: probably damaging