Paralogue Annotation for RYR1 residue 3500

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3500
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3500

No paralogue variants have been mapped to residue 3500 for RYR1.

RYR1	LTADNKSKMAKAGDIQSGGSDQERTKKKRR>G<DRYSVQTSLIVATLKKMLPIGLNMCAPTDQ	3530
RYR2	LITDTKSKMSKAA-----VSDQERKKMKRK>G<DRYSMQTSLIVAALKRLLPIGLNICAPGDQ	3486
RYR3	LTGDSKSKMSKAMQVKSGGQDQERKKTKRR>G<DLYSIQTSLIVAALKKMLPIGLNMCTPGDQ	3387
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G3500E	c.10499G>A	Putative Benign			SIFT: Polyphen: