No paralogue variants have been mapped to residue 2150 for RYR2.
RYR2 | LASLGQIRSLLSVRMGKEEEKLMIRGLGDI>M<NNKVFYQHPNLMRALGMHETVMEVMVNVLG | 2180 |
RYR1 | LECLGQIRSLLIVQMGPQEENLMIQSIGNI>M<NNKVFYQHPNLMRALGMHETVMEVMVNVLG | 2216 |
RYR3 | LAALGQIRSLLSVRMGKEEELLMINGLGDI>M<NNKVFYQHPNLMRVLGMHETVMEVMVNVLG | 2078 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2150I | c.6450G>A | Unknown | 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 |