Paralogue Annotation for RYR1 residue 1667

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1667
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1667

No paralogue variants have been mapped to residue 1667 for RYR1.

RYR1	ALHIPEENRCMDILELSERLDLQRFHSHTL>R<LYRAVCALGNNRVAHALCSHVDQAQLLHAL	1697
RYR2	SLHIPEENRSVDILELTEQEELLKFHYHTL>R<LYSAVCALGNHRVAHALCSHVDEPQLLYAI	1689
RYR3	ALHIPEENRCVDILELCEQEDLMRFHYHTL>R<LYSAVCALGNSRVAYALCSHVDLSQLFYAI	1593
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1667C	c.4999C>T	Benign		rs144157950	SIFT: Polyphen: benign
p.R1667H	c.5000G>A	Putative Benign		rs138978909	SIFT: Polyphen: benign