No paralogue variants have been mapped to residue 906 for RYR2.
RYR2 | PHLERIREKLAENIHELWVMNKIELGWQYG>P<VRDDNKRQHPCLVEFSKLPEQERNYNLQMS | 936 |
RYR1 | PHLERIREKLAENIHELWALTRIEQGWTYG>P<VRDDNKRLHPCLVDFHSLPEPERNYNLQMS | 924 |
RYR3 | PHLEKIRDRLAENIHELWGMNKIELGWTFG>K<IRDDNKRQHPCLVEFSKLPETEKNYNLQMS | 923 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P906A | c.2716C>G | 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 | |||
p.P906L | c.2717C>T | Putative Benign | SIFT: Polyphen: |