Paralogue Annotation for RYR1 residue 2781

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2781
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2781

No paralogue variants have been mapped to residue 2781 for RYR1.

RYR1	LDSFINKFAEYTHEKWAFDKIQNNWSYGEN>I<DEELKTHPMLRPYKTFSEKDKEIYRWPIKE	2811
RYR2	LEYFINKYAEHSHDKWSMDKLANGWIYGEI>Y<SDSSKVQPLMKPYKLLSEKEKEIYRWPIKE	2777
RYR3	LEYIVTKYAEHSHDKWACDKSQSGWKYGIS>L<DENVKTHPLIRPFKTLTEKEKEIYRWPARE	2674
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2781T	c.8342T>C	Putative Benign			SIFT: Polyphen: