ABCMdb

ABCC7 p.Ser1045Tyr

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Publications

PMID: 18676185 [PubMed] Rana-Diez P et al: "Three novel mutations in the CFTR gene identified in Galician patients."

No. Sentence Comment

1 In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. Login to comment
12 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. Login to comment
18 3. Case reports 3.1. Case 1: patient homozygous for mutation S1045Y A female born in 1972, nulliparous, diagnosed with allergic bronchial asthma at her local primary healthcare centre with allergic sensibility to dust mites, gramineous pollen and Journal of Cystic Fibrosis 7 (2008) 520-522 www.elsevier.com/locate/jcf ⁎ Corresponding author. Login to comment
39 In this patient we found amino acid change S1045Y: serine (TCT) to tyrosine (TAT) at codon 1045 in exon 17A of CFTR. Login to comment
68 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. Login to comment
75 The patient homozygous for mutation S1045Y resulted in an amino acid change from serine to tyrosine that appeared to be the cause of a serious cystic fibrosis condition with multiorganic repercussions andfatalconsequences for thepatient. Login to comment
95 The patient, homozygous for mutation S1045Y, probably would have been benefit from an early antibiotic treatment avoiding the severe lung problems that finally developed. Login to comment