No paralogue variants have been mapped to residue 4365 for RYR2.
RYR2 | DPTQDEVRGDGEEGERKP-LEAALPSEDLT>D<LKELTEESDLLSD-----IFGLDLKREGGQ | 4390 |
RYR1 | DPTSDEVHGEQPAGPGGDADGEGASEGAGD>A<AEGAGDEEEAVHEAGPGGADGAVAVTDGGP | 4445 |
RYR3 | DPTQFGIHDDTMEAERAEVMEPGITTELVH>F<IKGEKGDTDIMSD-----LFGLHPKKEGS- | 4291 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4365N | c.13093G>A | Putative Benign | rs372880584 | SIFT: tolerated Polyphen: benign | |
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 |