Paralogue Annotation for RYR1 residue 1100

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1100
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1100

No paralogue variants have been mapped to residue 1100 for RYR1.

RYR1	RVRIFRAEKSYTVQSGRWYFEFEAVTTGEM>R<VGWARPELRPDVELGADELAYVFNGHRGQR	1130
RYR2	RFRIFRAEKTYAVKAGRWYFEFETVTAGDM>R<VGWSRPGCQPDQELGSDERAFAFDGFKAQR	1144
RYR3	KIRFFRVERSYAVRSGKWYFEFEVVTGGDM>R<VGWARPGCRPDVELGADDQAFVFEGNRGQR	1130
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1100C	c.3298C>T	Putative Benign			SIFT: Polyphen:
p.R1100H	c.3299G>A	Putative Benign			SIFT: Polyphen: