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 | > < |
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 |