ABCC7 p.Ser1426Phe
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PMID: 16128988
[PubMed]
Larriba S et al: "Molecular evaluation of CFTR sequence variants in male infertility of testicular origin."
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Sentence
Comment
51
CFTR analysis We identified 14 different, potential disease-causing CFTR sequence variants, 11 of them are translated into missense amino acid changes (p.R75Q, p.P111L, p.R117H, p.I148T, p.R334W, p.M348K, p.G576A, p.R668C, p.D1270N, p.S1235R and p.S1426F), one deletion (p.F508del) and two alleles affecting exon splicing [IVS8-6(5T), c.1716G>A] in 30 of 83 infertile patients (Table 1) giving a frequency of 36.1%.
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ABCC7 p.Ser1426Phe 16128988:51:248
status: NEW79 p.S1426F (c.4409 C>T) in exon 24 represents a novel mutation described here for the first time.
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ABCC7 p.Ser1426Phe 16128988:79:2
status: NEW