Paralogue Annotation for RYR1 residue 3499

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3499
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3499

No paralogue variants have been mapped to residue 3499 for RYR1.

RYR1	FLTADNKSKMAKAGDIQSGGSDQERTKKKR>R<GDRYSVQTSLIVATLKKMLPIGLNMCAPTD	3529
RYR2	FLITDTKSKMSKAA-----VSDQERKKMKR>K<GDRYSMQTSLIVAALKRLLPIGLNICAPGD	3485
RYR3	FLTGDSKSKMSKAMQVKSGGQDQERKKTKR>R<GDLYSIQTSLIVAALKKMLPIGLNMCTPGD	3386
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3499W	c.10495C>T	Putative Benign		rs147058802	SIFT: Polyphen: possibly damaging
p.R3499P	c.10496G>C	Putative Benign		rs138324438	SIFT: Polyphen: benign
p.R3499G	c.10495C>G	Putative Benign			SIFT: Polyphen: