Paralogue Annotation for RYR1 residue 2562

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2562
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2562

No paralogue variants have been mapped to residue 2562 for RYR1.

RYR1	AAASLDTATFSTTEMALALNRYLCLAVLPL>I<TKCAPLFAGTEHRAIMVDSMLHTVYRLSRG	2592
RYR2	AAASLDTAALSATDMALALNRYLCTAVLPL>L<TRCAPLFAGTEHHASLIDSLLHTVYRLSKG	2558
RYR3	ASASLDTVSLSTTEAALALNRYICSAVLPL>L<TRCAPLFAGTEHCTSLIDSTLQTIYRLSKG	2455
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2562T	c.7685T>C	Putative Benign			SIFT: Polyphen: