ABCMdb

ABCC7 p.Glu479*

None has been submitted yet.

Publications

PMID: 25910067 [PubMed] Lucarelli M et al: "A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis."

No. Sentence Comment

141 The E479X (p.Glu479*) mutation was found in a novel complex allele [E479X;V754M] (p. Login to comment
142 [Glu479*;Val754Met]) in a CF-PI male patient, enrolled at 1.5 years of age on the basis of symptoms, with a F508del/[E479X;V754M] (p. Login to comment
181 Old nomenclature (legacy name) New nomenclature (HGVS name) Nucleotidic Aminoacidic Nucleotidic Aminoacidic Position notation notation Position notation notation Exon 10 1567G>T E479X exon 11 c.1435G>T p.Glu479* Exon 9 1456A>T K442X exon 10 c.1324A>T p.Lys442* Exon 11 1717G>A D529N exon 12 c.1585G>A p.Asp529Asn Exon 10 1526C>A T465N exon 11 c.1394C>A p.Thr465Asn Exon 2 188G>A W19X(TAG) exon 2 c.56G>A p.Trp19*(TAG) Exon 22 4256A>C H1375P exon 25 c.4124A>C p.His1375Pro Exon 13 2467C>T Q779X exon14 c.2335C>T p.Gln779* Exon 20 3871G>C G1247R(G>C) exon 23 c.3739G>C p.Gly1247Arg Exon 20 3862G>A G1244R exon 23 c.3730G>A p.Gly1244Arg Intron 7 1249-8A>G - intron 8 c.1117-8A>G - Exon 3 299A>G E56G exon 3 c.167A>G p.Glu56Gly Table 2. Login to comment
183 Average sweat test Genotypea valueb Semen Patient Legacy name HGVS name Gender (mEq/L) analysis Cause of enrollment Diagnosis 1 F508del/[E479X;V754M] c. Login to comment
264 The [E479X;V754M] (p. Login to comment
266 The E479X (p.Glu479*) is a novel mutation (described above and in Tables 1-3) found exclusively in this novel complex allele. Login to comment
379 [Ser466*;Arg1070Gln] consequence [E479X;V754M] c. Login to comment
380 [1435G>T;2260G>A] CF-PI E479X nd; V754M non CF-causing p. Login to comment