No paralogue variants have been mapped to residue 2065 for RYR1.
RYR1 | DLLAHCGIQLDGEEEEP--EEETTLGSRLM>S<LLEKVRLVKKKEEKPEEERSAEESKPRSLQ | 2095 |
RYR2 | DLMTHCGIELDEDG-SLDGNSDLTIRGRLL>S<LVEKVTYLKKKQA--EKPVESDSKKSSTLQ | 2059 |
RYR3 | DLLLHCGVPLEEEE-EE--EEDTSWTGKLC>A<LVYKIKGPPKPEK--EQPTEEEERCPTTLK | 1957 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S2065N | c.6194G>A | Putative Benign | SIFT: Polyphen: |