Paralogue Annotation for RYR1 residue 1700

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1700
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1700

No paralogue variants have been mapped to residue 1700 for RYR1.

RYR1	RAVCALGNNRVAHALCSHVDQAQLLHALED>A<HLPGPLRAGYYDLLISIHLESACRSRRSML	1730
RYR2	SAVCALGNHRVAHALCSHVDEPQLLYAIEN>K<YMPGLLRAGYYDLLIDIHLSSYATARLMMN	1722
RYR3	SAVCALGNSRVAYALCSHVDLSQLFYAIDN>K<YLPGLLRSGFYDLLISIHLASAKERKLMMK	1626
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1700T	c.5098G>A	Putative Benign			SIFT: Polyphen:
p.A1700G	c.5099C>G	Putative Benign			SIFT: Polyphen: