mutant cdnas containing thr43 to lys43 ( beta-glcthr43 -- -- lys ) and asp358 to glu358 ( beta-glcasp358 -- -- glu ) substitutions and two cdnas containing ashkenazi jewish gaucher disease type 1 mutations , arg120 to gln120 ( beta-glcarg120 -- -- gln ) and asn370 to ser370 ( beta-glcasn370 -- -- ser ) were expressed and the gene products characterized by enzymatic , immunologic , and inhibitor studies .
C0061472
glu
C0017797
gln