ABCC7 p.Ser1045Tyr
| Predicted by SNAP2: | A: N (82%), C: N (82%), D: D (75%), E: D (71%), F: D (71%), G: N (87%), H: D (66%), I: D (59%), K: D (75%), L: D (66%), M: D (53%), N: N (53%), P: D (80%), Q: D (63%), R: D (75%), T: N (82%), V: D (63%), W: D (75%), Y: D (63%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: D, G: N, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: D, R: D, T: N, V: D, W: D, Y: D, |
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[hide] Three novel mutations in the CFTR gene identified ... J Cyst Fibros. 2008 Nov;7(6):520-2. Epub 2008 Aug 3. Rana-Diez P, Colon C, Alonso-Fernandez JR, Solar A, Barros-Tizon JC, Barros-Casas D, Sirvent J, Carracedo A, Barros F
Three novel mutations in the CFTR gene identified in Galician patients.
J Cyst Fibros. 2008 Nov;7(6):520-2. Epub 2008 Aug 3., [PMID:18676185]
Abstract [show]
We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. 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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No. Sentence Comment
1 In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems.
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ABCC7 p.Ser1045Tyr 18676185:1:52
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.Ser1045Tyr 18676185:12:126
status: NEW18 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.
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ABCC7 p.Ser1045Tyr 18676185:18:61
status: NEW39 In this patient we found amino acid change S1045Y: serine (TCT) to tyrosine (TAT) at codon 1045 in exon 17A of CFTR.
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ABCC7 p.Ser1045Tyr 18676185:39:43
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.Ser1045Tyr 18676185:68:165
status: NEW75 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.
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ABCC7 p.Ser1045Tyr 18676185:75:36
status: NEW95 The patient, homozygous for mutation S1045Y, probably would have been benefit from an early antibiotic treatment avoiding the severe lung problems that finally developed.
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ABCC7 p.Ser1045Tyr 18676185:95:37
status: NEW