Paralogue Annotation for RYR2 residue 2542

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2542
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2542

No paralogue variants have been mapped to residue 2542 for RYR2.

RYR2	MALALNRYLCTAVLPLLTRCAPLFAGTEHH>A<SLIDSLLHTVYRLSKGCSLTKAQRDSIEVC	2572
RYR1	MALALNRYLCLAVLPLITKCAPLFAGTEHR>A<IMVDSMLHTVYRLSRGRSLTKAQRDVIEDC	2606
RYR3	AALALNRYICSAVLPLLTRCAPLFAGTEHC>T<SLIDSTLQTIYRLSKGRSLTKAQRDTIEEC	2469
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2542S	c.7624G>T	Putative Benign		rs373602064	SIFT: tolerated Polyphen: possibly damaging
p.A2542T	c.7624G>A	Putative Benign			SIFT: Polyphen:
Reports		Unknown		Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510