Paralogue Annotation for RYR1 residue 1976

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1976
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1976

No paralogue variants have been mapped to residue 1976 for RYR1.

RYR1	FCDQELQHRVESLAAFAERYVDKLQANQRS>R<YGLLIKAFSMTAAETARRTREFRSPPQEQI	2006
RYR2	LCDCQVRHRIEAIVAFSDDFVAKLQDNQRF>R<YNEVMQALNMSAALTARKTKEFRSPPQEQI	1973
RYR3	LCDCELQHRVEAIVAFGDIYVSKLQANQKF>R<YNELMQALNMSAALTARKTKEFRSPPQEQI	1874
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1976G	c.5926C>G	Putative Benign			SIFT: Polyphen:
p.R1976L	c.5927G>T	Putative Benign			SIFT: Polyphen: