Paralogue Annotation for RYR1 residue 2579

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2579
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2579

No paralogue variants have been mapped to residue 2579 for RYR1.

RYR1	ALNRYLCLAVLPLITKCAPLFAGTEHRAIM>V<DSMLHTVYRLSRGRSLTKAQRDVIEDCLMS	2609
RYR2	ALNRYLCTAVLPLLTRCAPLFAGTEHHASL>I<DSLLHTVYRLSKGCSLTKAQRDSIEVCLLS	2575
RYR3	ALNRYICSAVLPLLTRCAPLFAGTEHCTSL>I<DSTLQTIYRLSKGRSLTKAQRDTIEECLLA	2472
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2579A	c.7736T>C	Putative Benign			SIFT: Polyphen: