No paralogue variants have been mapped to residue 2070 for RYR1.
RYR1 | CGIQLDGEEEEP--EEETTLGSRLMSLLEK>V<RLVKKKEEKPEEERSAEESKPRSLQELVSH | 2100 |
RYR2 | CGIELDEDG-SLDGNSDLTIRGRLLSLVEK>V<TYLKKKQA--EKPVESDSKKSSTLQQLISE | 2064 |
RYR3 | CGVPLEEEE-EE--EEDTSWTGKLCALVYK>I<KGPPKPEK--EQPTEEEERCPTTLKELISQ | 1962 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2070M | c.6208G>A | Putative Benign | SIFT: Polyphen: | ||
p.V2070E | c.6209T>A | Putative Benign | SIFT: Polyphen: |