ABCA3 p.Arg194Gly
| Predicted by SNAP2: | A: D (59%), C: D (59%), D: D (59%), E: D (53%), F: D (59%), G: D (53%), H: N (66%), I: D (53%), K: N (78%), L: D (53%), M: D (53%), N: N (72%), P: N (53%), Q: N (61%), S: N (66%), T: N (72%), V: D (53%), W: D (71%), Y: N (53%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Surfactant composition and function in patients wi... Pediatr Res. 2006 Jun;59(6):801-5. Epub 2006 Apr 26. Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, Nogee LM, Hamvas A
Surfactant composition and function in patients with ABCA3 mutations.
Pediatr Res. 2006 Jun;59(6):801-5. Epub 2006 Apr 26., [PMID:16641205]
Abstract [show]
Mutations in the gene encoding the ATP binding cassette transporter member A3 (ABCA3) are associated with fatal surfactant deficiency. ABCA3 lines the limiting membrane of lamellar bodies within alveolar type-II cells, suggesting a role in surfactant metabolism. The objective of this study was to determine the surfactant phospholipid composition and function in patients with mutations in the ABCA3 gene. Bronchoalveolar lavage (BAL) fluid was analyzed from three groups of infants: 1) Infants with ABCA3 mutations, 2) infants with inherited surfactant protein-B deficiency (SP-B), and 3) patients without parenchymal lung disease (CON). Surfactant phospholipid profile was determined using two-dimensional thin-layer chromatography, and surface tension was measured with a pulsating bubble surfactometer. Phosphatidylcholine comprised 41 +/- 19% of the total phospholipid in the BAL fluid of the ABCA3 group compared with 78 +/- 3% and 68 +/- 18%, p = 0.008 and 0.05, of the CON and SP-B groups, respectively. Surface tension was 31.5 +/- 9.3 mN/m and was significantly greater than CON but no different from SP-B. We conclude that mutations in ABCA3 are associated with surfactant that is deficient in phosphatidylcholine and has decreased function, suggesting that ABCA3 plays an important role in pulmonary surfactant phospholipid homeostasis.
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No. Sentence Comment
66 ABCA3 patient data Patient Sex Age at sample acquisition (mo) Allele 1 Allele 2 Histopathologic diagnosis PC/lipid (%) Surface tension (mN/m) Lipid/ protein SP-A (g)* SP-B (ng)* 1 M 5 R194G delF1203 Chronic pneumonitis of infancy 59.6 28 0.76 533 448 2 F 3 L1595P D253Y Interstitial pneumonitis/alveolar hypoplasia NA NA NA 21.3 212 3 F 5 1112-20 GϾA 3163del10 Pulmonary alveolar proteinosis/interstitial pneumonitis 25.4 37.8 0.33 60.8 66.5 4 F 2 M1I delE203 Interstitial pneumonitis 31.2 34.6 0.39 68 24 5 M 15 1126ins15 1866del25 Interstitial fibrosis/interstitial pneumonitis 23.8 28.5 0.43 NA 18 6 F 3 P766S-L960F 1729delTC Pulmonary alveolar proteinosis NA NA NA 135 193 7 F 4 W179C 1382delTG Interstitial pneumonitis/dysmature alveolar segments 78.1 11.1 0.48 51.9 59.1 8 F 4 R43L P264R Chronic interstitial pneumonitis 39.8 34.3 0.25 22.7 40 NA, not available.
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ABCA3 p.Arg194Gly 16641205:66:191
status: NEW