Paralogue Annotation for RYR1 residue 1270

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1270
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1270

No paralogue variants have been mapped to residue 1270 for RYR1.

RYR1	GLPQFEPVPLEHPHYEVSRVDGTVDTPPCL>R<LTHRTWGSQNSLVEMLFLRLSLPVQFHQHF	1300
RYR2	RLPQFLQVPSNHEHIEVTRIDGTIDSSPCL>K<VTQKSFGSQNSNTDIMFYRLSMPIECAEVF	1314
RYR3	RLPTFVNVPKDHPHIEVMRIDGTMDSPPCL>K<VTHKTFGTQNSNADMIYCRLSMPVECHSSF	1300
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1270S	c.3808C>A	Putative Benign			SIFT: Polyphen:
p.R1270P	c.3809G>C	Putative Benign			SIFT: Polyphen: