Paralogue Annotation for RYR1 residue 1727

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1727
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1727

No paralogue variants have been mapped to residue 1727 for RYR1.

RYR1	LEDAHLPGPLRAGYYDLLISIHLESACRSR>R<SMLSEYIVPLTPETRAITLFPPGRSTENGH	1757
RYR2	IENKYMPGLLRAGYYDLLIDIHLSSYATAR>L<MMNNEYIVPMTEETKSITLFPD------EN	1743
RYR3	IDNKYLPGLLRSGFYDLLISIHLASAKERK>L<MMKNEYIIPITSTTRNIRLFPD------ES	1647
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1727C	c.5179C>T	Putative Benign			SIFT: Polyphen:
p.R1727H	c.5180G>A	Putative Benign			SIFT: Polyphen: