Paralogue Annotation for RYR2 residue 2499

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2499
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2499

No paralogue variants have been mapped to residue 2499 for RYR2.

RYR2	VLFLDRVYGIEVQDFLLHLLEVGFLPDLRA>A<ASLDTAALSATDMALALNRYLCTAVLPLLT	2529
RYR1	VLFLDRVYGIENQDFLLHVLDVGFLPDMRA>A<ASLDTATFSTTEMALALNRYLCLAVLPLIT	2563
RYR3	VLFLDRVYGIKDQTFLLHLLEVGFLPDLRA>S<ASLDTVSLSTTEAALALNRYICSAVLPLLT	2426
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2499T	c.7495G>A	Putative Benign		rs191850147	SIFT: deleterious Polyphen: probably damaging