ABCMdb

PMID: 16641205

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., [PubMed]

Sentences

No. Mutations Sentence Comment

66 ABCA3 p.Pro766Ser ABCA3 p.Pro766Ser ABCA3 p.Arg43Leu ABCA3 p.Arg43Leu ABCA3 p.Asp253Tyr ABCA3 p.Asp253Tyr ABCA3 p.Pro264Arg ABCA3 p.Pro264Arg ABCA3 p.Leu960Phe ABCA3 p.Leu960Phe ABCA3 p.Leu1595Pro ABCA3 p.Leu1595Pro ABCA3 p.Arg194Gly ABCA3 p.Arg194Gly ABCA3 p.Trp179Cys ABCA3 p.Trp179Cys 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. Login to comment