No paralogue variants have been mapped to residue 2035 for RYR2.
RYR2 | HCGIELDEDG-SLDGNSDLTIRGRLLSLVE>K<VTYLKKKQA--EKPVESDSKKSSTLQQLIS | 2063 |
RYR1 | HCGIQLDGEEEEP--EEETTLGSRLMSLLE>K<VRLVKKKEEKPEEERSAEESKPRSLQELVS | 2099 |
RYR3 | HCGVPLEEEE-EE--EEDTSWTGKLCALVY>K<IKGPPKPEK--EQPTEEEERCPTTLKELIS | 1961 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K2035N | c.6105G>C | Putative Benign | SIFT: Polyphen: |