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Cells were transfected with pcDNA3-CFTR or pcDNA3 -NBD1 constructs containing indicated mutations.
The mutants of p27 were generated by PCR on p27wt vector using oligonucleotides carrying the indicated mutations.
The plasmids pRS314DNA2, pRS314dna2K1080E, pRS314dna2E675A, and pRS314dna2K1080E,E675A have the 6 kb EcoRI fragment containing Dna2 or Dna2 with the indicated mutations cloned into pRS314CEN TRP at the EcoR1 site.
The RFLP on samples from patient 64, 76 and 160 indicated mutations.
(B ) Schematic of Gem1 and the indicated mutations analyzed in this study.
The indicated mutations are specified in the top right corner of each panel.
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The stars indicate mutations introduced at residues L109, M112 and R113 that, based on the crystal structure, make contacts with the RING domain.
Gray rows indicate mutations evaluated as probably functionally damaging by our own knowledge-driven functional assessment.
Blue ball indicates missense mutation, red balls indicate mutations causing amino acid premature stop codon (X) and yellow ball indicates in frame deletion.
These FSTs indicate mutations in 29,624 (53.1 %) of 55,801 genes identified by the rice genome annotation project (RGAP) annotation version 7 (Fig. 1).
Italicized text indicates mutations or mutant line.
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