Paralogue Annotation for RYR1 residue 3403

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3403
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3403

No paralogue variants have been mapped to residue 3403 for RYR1.

RYR1	VSEEEQLRLEAKAEAQEGELLVRDEFSVLC>R<DLYALYPLLIRYVDNNRAQWLTEPNPSAEE	3433
RYR2	VSEEDHLKAEARGDMSEAELLILDEFTTLA>R<DLYAFYPLLIRFVDYNRAKWLKEPNPEAEE	3394
RYR3	VQEEEQLKADGKGDTQEAELLILDEFAVLC>R<DLYAFYPMLIRYVDNNRSNWLKSPDADSDQ	3290
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3403W	c.10207C>T	Putative Benign		rs373251185	SIFT: deleterious Polyphen: possibly damaging
p.R3403Q	c.10208G>A	Putative Benign			SIFT: Polyphen: