ABCMdb

PMID: 15705292

Claustres M
Molecular pathology of the CFTR locus in male infertility.
Reprod Biomed Online. 2005 Jan;10(1):14-41., [PubMed]

Sentences

No. Mutations Sentence Comment

159 ABCC7 p.Gly542* Examples include nonsense (G542X), frameshifl (3659delC) or severe splicing (1717-lG-^A) mutations. Login to comment 170 ABCC7 p.Gly1349Asp mutations so far attributed to this group are located within the NBD, such as missense mutations G55ID in NBDI or G1349D in NBD2. Login to comment 174 ABCC7 p.Arg334Trp ABCC7 p.Arg347Pro R334W or R347P. Login to comment 179 ABCC7 p.Ala455Glu 2789H-5G-*A. or the 5T allele) or inefficienl trafficking (A455E). Login to comment 190 ABCC7 p.Pro574His However a single mutation can cause more than one type of abnormality, and hence fall into multiple classes (for example, missense P574H is both a class 2 and class 4 mutation, missense G.'S. Login to comment 193 ABCC7 p.Gly85Glu However, certain missense mutations (such as G85E) may confer a variable panereatic phenotype. Login to comment 234 ABCC7 p.Arg117His The 5T allele as a genetic modifier of a CF mutation A possible role for the 5T variant in disease was first suspected by the observation of variable phenoiypes when ii is associated on a single ChTR gene (/;i vis) with a missense mutation (R117H) whieh gives rise lo a partially funetional CFTR protein (Sheppard et at.. 1993). Login to comment 237 ABCC7 p.Arg117His Analysis of Tn alieles co-segregating with RI 17H in groups of patients with CF and CBAVD revealed a tendency ofthe R117H allele to be asstxiated wilh the 5T variiint in CF patients, whereas il was associated with the 7T variant in CBAVD patients (Kiesewetter et at.. 1993). Login to comment 239 ABCC7 p.Arg117His R117H-7T would cause CBAVD. Login to comment 380 ABCC7 p.Arg75Gln such as F5()8C. I7I6G>A, R75Q or the double mutant |G576A+R668Ci may be mild [nuiants involved in CBAVD cases when no other mutation is found on the allele despite careful whole coding sequences scanning. Login to comment 385 ABCC7 p.Arg668Cys ABCC7 p.Gly576Ala (2003a) analysed the splicing pattern resulting from several variants in CFTR exon 12, including G576A (G>C at nucleotide 1859 in exon 12), which is associated in cis with R668C (C>T at nucleotide 2134 in exon 1.^). Login to comment 466 ABCC7 p.Ala455Glu ABCC7 p.Gln452Pro inducing exon inclusion (Q452P) or exclusion (A455E). Login to comment 472 ABCC7 p.Ala455Glu This is the case of missense A455E, which was found in this study to increase exon 9 skipping {50% in a TGIITO context). Login to comment 934 ABCC7 p.Arg74Trp p.R74W and p.DI 270N cystic fibrosis causing mutalions? Login to comment