No paralogue variants have been mapped to residue 2071 for RYR1.
RYR1 | GIQLDGEEEEP--EEETTLGSRLMSLLEKV>R<LVKKKEEKPEEERSAEESKPRSLQELVSHM | 2101 |
RYR2 | GIELDEDG-SLDGNSDLTIRGRLLSLVEKV>T<YLKKKQA--EKPVESDSKKSSTLQQLISET | 2065 |
RYR3 | GVPLEEEE-EE--EEDTSWTGKLCALVYKI>K<GPPKPEK--EQPTEEEERCPTTLKELISQT | 1963 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2071W | c.6211C>T | Putative Benign | rs147441124 | SIFT: Polyphen: possibly damaging | |
p.R2071Q | c.6212G>A | Putative Benign | rs139775280 | SIFT: Polyphen: benign |