ABCC7 p.Ala107Val
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PMID: 18676185
[PubMed]
Rana-Diez P et al: "Three novel mutations in the CFTR gene identified in Galician patients."
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In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V.
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ABCC7 p.Ala107Val 18676185:2:180
status: NEW12 From these analyses we discovered three mutations in the CFTR gene not previously described in the literature: one homozygous S1045Y and two compound heterozygous, A107V and M595I, both combined with the F508del mutation.
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ABCC7 p.Ala107Val 18676185:12:164
status: NEW52 3.3. Case 3: patient A107V/F508del A male born in 1981, diagnosed with clinical symptoms compatible with cystic fibrosis at 8 years old, with a F508del mutation detected at that stage.
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ABCC7 p.Ala107Val 18676185:52:21
status: NEW64 In this patient we found an amino acid change A107V from alanine (GCT) to valine (GTT) at codon 107 in exon 4 of the CFTR.
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ABCC7 p.Ala107Val 18676185:64:46
status: NEW68 To predict the possible impact Table 1 New CFTR mutations found in Galician patients and bioinformatic predictions AA change Exon Polyphena PSICb PMUTc Reliabilityd S1045Y 17A Possibly damaging 1.864 Pathological 7 M595I 13 Benign 1.310 Neutral 3 A107V 4 Possibly damaging 1.602 Pathological 2 a Polyphen prediction about the impact of the amino acid substitution on the function of the protein.
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ABCC7 p.Ala107Val 18676185:68:247
status: NEW84 In the last case, a patient with the A107V/F508del genotype showed important pulmonary problems.
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ABCC7 p.Ala107Val 18676185:84:37
status: NEW