ABCMdb

PMID: 7739684

Chillon M, Casals T, Mercier B, Bassas L, Lissens W, Silber S, Romey MC, Ruiz-Romero J, Verlingue C, Claustres M, et al.
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
N Engl J Med. 1995 Jun 1;332(22):1475-80., [PubMed]

Sentences

No. Mutations Sentence Comment

74 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Arg553* ABCC7 p.Gly1349Asp ABCC7 p.Gly1349Asp ABCC7 p.Arg334Trp ABCC7 p.Arg334Trp ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Arg347His ABCC7 p.Asn1303Lys ABCC7 p.Asn1303Lys ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Gly542* ABCC7 p.Arg1162* ABCC7 p.Arg1162* ABCC7 p.Asp1270Asn ABCC7 p.Asp1270Asn ABCC7 p.Gly149Arg ABCC7 p.Gly149Arg ABCC7 p.Leu206Trp ABCC7 p.Leu206Trp ABCC7 p.Arg258Gly ABCC7 p.Arg258Gly ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Ser1235Arg ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Arg668Cys ABCC7 p.Arg668Cys ABCC7 p.Arg668Cys ABCC7 p.Arg668Cys ABCC7 p.Arg668Cys ABCC7 p.Arg668Cys ABCC7 p.Ala800Gly ABCC7 p.Ala800Gly ABCC7 p.Arg1070Trp ABCC7 p.Arg1070Trp ABCC7 p.Lys1060Thr ABCC7 p.Lys1060Thr ABCC7 p.Arg1066His ABCC7 p.Arg1066His ABCC7 p.Arg75Leu ABCC7 p.Arg75Leu OF PATIENTS POLYT GENOTYPE† #2c;F508/R668C 32c;F508/D1152H 32c;F508/D1270N ⌬;F508/R75L ⌬F508/R117H ⌬;F508/L206W #2c;F508/R258G #2c;F508/S1235R ⌬F508/R347H Ȳc;F508/R347H R117H/G1349D R117H/712-1G192;T G149R/R668C R347H/R1066H R553X/R668C R1070W/2869insG ⌬F508/- G542X/- W1282X/- R334W/- K1060T/- R1162X/- N1303K/- A800G/- ⌬F508/- ⌬F508/- ⌬F508/- ⌬E115/- R117H/- R347H/- G542X/- R553X/- 1677delTA/- 2184delA/- 2789ϩ5G→Α/- S1235R/- W1282X/- -/- -/- -/- -/- 2 2 2 1 1 1 1 1 1 1 1 1 1 1 1 1 22 4 3 1 1 1 1 1 7 1 1 1 1 2 1 1 1 1 1 1 1 3 3 1 19 9T/7T 9T/7T 9T/7T 9T/7T 9T/7T 9T/9T 9T/7T 9T/7T 9T/7T 9T/9T 7T/7T 7T/9T 9T/7T 9T/7T 7T/7T 7T/7T 9T/5T 9T/5T 7T/5T 7T/5T 7T/5T 7T/5T 9T/5T 5T/5T 9T/7T 9T/9T 7T/7T 7T/7T 7T/7T 9T/7T 9T/7T 7T/7T 7T/7T 7T/7T 7T/7T 7T/9T 7T/7T 9T/5T 7T/5T 5T/5T 7T/7T -/- 3 7T/9T *Data were obtained from the Spanish population analyzed in this study. Login to comment 85 ABCC7 p.Ala800Gly Only one CFTR mutation (A800G) was associated with the 5T allele, whereas all the others were associated with the 7T or the 9T allele, confirming that in each patient with CBAVD the 5T allele corresponded to the chromosome that did not carry the CFTR mutation. Login to comment 101 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Four fathers who were carriers of cystic fibrosis had one CFTR gene with the 5T allele and the other with a severe cystic fibrosis mutation (G542X, N1303K, 1812-1G→A, or 936delTA). Login to comment 119 ABCC7 p.Glu585* ABCC7 p.Lys710* Three other patients, 8, 12, and 14 years of age with the genotypes E585X/5T and K710X/5T (two were siblings), had a diagnosis of cystic fibrosis due to elevated concentrations of electrolytes in sweat (Ͼ60 mmol per liter) and episodes of dehydration, but no other clinical features. Login to comment