Paralogue Annotation for RYR1 residue 1693

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1693
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1693

No paralogue variants have been mapped to residue 1693 for RYR1.

RYR1	SHTLRLYRAVCALGNNRVAHALCSHVDQAQ>L<LHALEDAHLPGPLRAGYYDLLISIHLESAC	1723
RYR2	YHTLRLYSAVCALGNHRVAHALCSHVDEPQ>L<LYAIENKYMPGLLRAGYYDLLIDIHLSSYA	1715
RYR3	YHTLRLYSAVCALGNSRVAYALCSHVDLSQ>L<FYAIDNKYLPGLLRSGFYDLLISIHLASAK	1619
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L1693R	c.5078T>G	Putative Benign			SIFT: Polyphen: