ABCMdb

PMID: 1284530

Lissens W, Bonduelle M, Malfroot A, Dab I, Liebaers I
A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.
Hum Mol Genet. 1992 Sep;1(6):441-2., [PubMed]

Sentences

No. Mutations Sentence Comment

7 ABCC7 p.Ser1255Pro This mutation predicts a serine to proline replacement (S1255P). Login to comment 10 ABCC7 p.Ser1255Pro In the presence of the S1255P mutation, the additional site reduces the largest fragment to fragments of 76 and 264 bp (Figure 2). Login to comment 11 ABCC7 p.Ser1255Pro In this way, it could be demonstrated that S1255P segregates with the paternal and grand-paternal CF chromosome (haplotype B, 5), as predicted by RFLP analysis (data not shown). Login to comment 23 ABCC7 p.Ser1255Pro Biological and nutritional status showed a light hypovitaminosis D. S1255P could still represent a rare polymorphism segregating with the CF allele in this family. However, it was absent in 50 normal and 75 AF508 chromosomes. Login to comment 25 ABCC7 p.Ser1255Pro Finally, functional analysis of S1255P mutant CFTR has shown that it has an altered response to ATP (M.J.Welsh, University of Iowa, USA, personal communication). Login to comment 26 ABCC7 p.Ser1255Pro This defect is in accordance with the position of the S1255P mutation in the second NBF, a region dependent on ATP for the activation of the transport process of the CFTR (14). Login to comment 27 ABCC7 p.Ser1255Pro All this evidence indicates that S1255P is causative of CF in this family. Login to comment 28 ABCC7 p.Ser1255Pro ABCC7 p.Ser1255Pro The frequency of S1255P seems to be very low or S1255P may even be unique to this family. However, the identification of mutations is necessary for precise genetic counseling in CF families and each mutation could provide information on the functional important sites of the CFTR. Login to comment 33 ABCC7 p.Ser1255Pro Left : normal, right : S1255P patient. Login to comment 36 ABCC7 p.Ser1255Pro Detection of the S1255P mutation on a 3% agarosc gel after digestion of exon 20 PCR product with Maelll. Login to comment 37 ABCC7 p.Ser1255Pro Lanes 1 and 2, undigested and digested PCR product of the S1255P patient, lane 3 mother of patient (AF5O8 carrier), lane 4 and 5 father and paternal grandfather of patient, lane 6 brother of patient (AF5O8 carrier), M: DRIgest II molecular weight standard (Pharmacia, Sweden). Login to comment