ABCC7 p.Gly550His
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PMID: 12110684
[PubMed]
DeCarvalho AC et al: "Mutations in the nucleotide binding domain 1 signature motif region rescue processing and functional defects of cystic fibrosis transmembrane conductance regulator delta f508."
No.
Sentence
Comment
167
CFTR variant Isc n % of CFTR wt CFTR S549R 1.70 Ϯ 0.11 4 CFTR G551D 1.17 Ϯ 0.12 4 CFTR ⌬F508 0.76 Ϯ 0.07 17 CFTR ⌬F/G550E 9.30 Ϯ 0.55 14 (*) CFTR ⌬F/G550D 6.06 Ϯ 0.63 12 (*) CFTR ⌬F/G550H 4.17 Ϯ 0.40 8 (*) Mutations in the ABC Signature Motif Region Rescue CFTR⌬F50835900 CFTR⌬F/G550E relative to FRT-CFTR ⌬F508 (Fig. 4B), although the mature band C was barely detectable, and the steady-state levels of band B were decreased for the revertant (Fig. 4A).
X
ABCC7 p.Gly550His 12110684:167:240
status: NEW202 Additional revertant of the ⌬F508 defect, G550H, was identified by the yeast-mating assay (not shown).
X
ABCC7 p.Gly550His 12110684:202:49
status: NEW208 CFTR⌬F/G550H and CFTR⌬F/G550D displayed 50 and 68% of CFTR⌬F/G550E Isc, respectively, demonstrating that these additional revertants were not as effective as G550E in suppressing the CFTR ⌬F508 defect.
X
ABCC7 p.Gly550His 12110684:208:14
status: NEW