Paralogue Annotation for RYR1 residue 1997

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1997
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1997

No paralogue variants have been mapped to residue 1997 for RYR1.

RYR1	DKLQANQRSRYGLLIKAFSMTAAETARRTR>E<FRSPPQEQINMLLQFKDGTDEEDCPLPEEI	2027
RYR2	AKLQDNQRFRYNEVMQALNMSAALTARKTK>E<FRSPPQEQINMLLNFKD--DKSECPCPEEI	1992
RYR3	SKLQANQKFRYNELMQALNMSAALTARKTK>E<FRSPPQEQINMLLNFQL--GE-NCPCPEEI	1892
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1997K	c.5989G>A	Other Disease Phenotype			SIFT: Polyphen:
Reports		Other Disease Phenotype		Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. Orphanet J Rare Dis. 2015 10:148. doi: 10.1186/s13023-015-0364-0. 26578207