ABCC7 p.Arg334*
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PMID: 15361410
[PubMed]
Liu X et al: "CFTR: a cysteine at position 338 in TM6 senses a positive electrostatic potential in the pore."
No.
Sentence
Comment
94
For ease of comparison, in T338C/R334X (X ¼ A or E) CFTRs and T338H/R334C CFTRs in which the cysteine was always blocked by reaction with MTS reagents or NEM, the titration curves were expressed in a normalized form.
X
ABCC7 p.Arg334* 15361410:94:33
status: NEW
PMID: 1283148
[PubMed]
Lindner M et al: "The spectrum of CFTR mutations in south-west German cystic fibrosis patients."
No.
Sentence
Comment
45
Although the small number of patients with this genotype does not allow any general statements about the phenotypic expression of this particular genotype or the effect of the N1303K mutation on CFTR function it is interesting to note that another compound heterozygous patient for the N1303K mutation and another nonsense mutation (R334X) has also been reported to be characterised by gastrointestinal and pulmonary involvement (Gasparini et al. 1991).
X
ABCC7 p.Arg334* 1283148:45:333
status: NEW