PMID: 7578402

Crystal RG, Mastrangeli A, Sanders A, Cooke J, King T, Gilbert F, Henschke C, Pascal W, Herena J, Harvey BG, et al.
Evaluation of repeat administration of a replication deficient, recombinant adenovirus containing the normal cystic fibrosis transmembrane conductance regulator cDNA to the airways of individuals with cystic fibrosis.
Hum Gene Ther. 1995 May;6(5):667-703., [PubMed]
Sentences
No. Mutations Sentence Comment
112 ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 7578402:112:15
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7578402:112:26
status: NEW
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 G55 ID, S5491, A455E, and G542X account for 10-20% of ttie non-delta F508 mutations (33). Login to comment 116 ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 7578402:116:138
status: NEW
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ABCC7 p.Trp1316*
X
ABCC7 p.Trp1316* 7578402:116:144
status: NEW
view ABCC7 p.Trp1316* details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 7578402:116:122
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Ser1255*
X
ABCC7 p.Ser1255* 7578402:116:128
status: NEW
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 "NuU" mutations, including frameshift, nonsense, and splicing mutations, have been found in compound heterozygotes [e.g., G542X/S1255X or R553X/W1316X]. Login to comment 132 ABCC7 p.Ser549Ile
X
ABCC7 p.Ser549Ile 7578402:132:42
status: NEW
view ABCC7 p.Ser549Ile details
 Other C F T R mutations such as AI507 and S549I have a similar pattem of incomplete glycosylation, but other mutations of C F T R code for a C F T R protein glycosylated in a normal fashion (37,46). Login to comment