Paralogue Annotation for RYR1 residue 256

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 256
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 256

No paralogue variants have been mapped to residue 256 for RYR1.

RYR1	DECLTISPAD-SDDQRRLVYYEGGAVCTHA>R<SLWRLEPLRISWSGSHLRWGQPLRVRHVTT	286
RYR2	DECLTVPSGEHGEEQRRTVHYEGGAVSVHA>R<SLWRLETLRVAWSGSHIRWGQPFRLRHVTT	302
RYR3	DECLTIPSTDQNDSQHRRIFYEAGGAGTRA>R<SLWRVEPLRISWSGSNIRWGQAFRLRHLTT	291
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R256S	c.766C>A	Putative Benign			SIFT: Polyphen:
p.R256C	c.766C>T	Putative Benign			SIFT: Polyphen:
p.R256H	c.767G>A	Putative Benign			SIFT: Polyphen: