Paralogue Annotation for RYR1 residue 2817

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2817
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2817

No paralogue variants have been mapped to residue 2817 for RYR1.

RYR1	THPMLRPYKTFSEKDKEIYRWPIKESLKAM>I<AWEWTIEKAREGEEEK--TEKKKTRKISQS	2845
RYR2	VQPLMKPYKLLSEKEKEIYRWPIKESLKTM>L<AWGWRIERTREGDSMALYNRTRRISQTSQV	2813
RYR3	THPLIRPFKTLTEKEKEIYRWPARESLKTM>L<AVGWTVERTKEGEALVQQRENEKLRSVSQA	2710
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2817T	c.8450T>C	Putative Benign		rs369194674	SIFT: deleterious Polyphen: benign