Paralogue Annotation for RYR1 residue 2585

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2585
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2585

No paralogue variants have been mapped to residue 2585 for RYR1.

RYR1	CLAVLPLITKCAPLFAGTEHRAIMVDSMLH>T<VYRLSRGRSLTKAQRDVIEDCLMSLCRYIR	2615
RYR2	CTAVLPLLTRCAPLFAGTEHHASLIDSLLH>T<VYRLSKGCSLTKAQRDSIEVCLLSICGQLR	2581
RYR3	CSAVLPLLTRCAPLFAGTEHCTSLIDSTLQ>T<IYRLSKGRSLTKAQRDTIEECLLAICNHLR	2478
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2585I	c.7754C>T	Putative Benign		rs371934483	SIFT: deleterious Polyphen: benign