Paralogue Annotation for RYR1 residue 2575

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2575
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2575

No paralogue variants have been mapped to residue 2575 for RYR1.

RYR1	EMALALNRYLCLAVLPLITKCAPLFAGTEH>R<AIMVDSMLHTVYRLSRGRSLTKAQRDVIED	2605
RYR2	DMALALNRYLCTAVLPLLTRCAPLFAGTEH>H<ASLIDSLLHTVYRLSKGCSLTKAQRDSIEV	2571
RYR3	EAALALNRYICSAVLPLLTRCAPLFAGTEH>C<TSLIDSTLQTIYRLSKGRSLTKAQRDTIEE	2468
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2575H	c.7724G>A	Putative Benign		rs369450781	SIFT: tolerated Polyphen: benign