ABCA3 p.Glu292Val

ClinVar: c.875A>T , p.Glu292Val D , Likely pathogenic
Predicted by SNAP2: A: N (61%), C: N (61%), D: N (72%), F: N (57%), G: N (57%), H: N (61%), I: N (61%), K: D (85%), L: N (57%), M: N (61%), N: N (66%), P: N (61%), Q: N (66%), R: N (57%), S: N (66%), T: N (72%), V: D (66%), W: D (63%), Y: N (61%),
Predicted by PROVEAN: A: D, C: D, D: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Kaminski WE, Piehler A, Wenzel JJ
ABC A-subfamily transporters: structure, function and disease.
Biochim Biophys Acta. 2006 May;1762(5):510-24. Epub 2006 Feb 28., [PMID:16540294]

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[hide] Baekvad-Hansen M, Nordestgaard BG, Dahl M
Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.
Respir Res. 2012 Aug 6;13(1):67., [PMID:22866751]

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[hide] Kaltenborn E, Kern S, Frixel S, Fragnet L, Conzelmann KK, Zarbock R, Griese M
Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation.
Hum Mol Genet. 2012 Jun 15;21(12):2793-806. Epub 2012 Mar 20., [PMID:22434821]

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[hide] Hartel C, Felderhoff-Muser U, Gebauer C, Hoehn T, Kribs A, Laux R, Moller J, Segerer H, Teig N, von der Wense A, Wieg C, Stichtenoth G, Herting E, Gopel W
ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants.
Acta Paediatr. 2012 Apr;101(4):380-3. doi: 10.1111/j.1651-2227.2011.02553.x. Epub 2012 Jan 9., [PMID:22145626]

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[hide] Flamein F, Riffault L, Muselet-Charlier C, Pernelle J, Feldmann D, Jonard L, Durand-Schneider AM, Coulomb A, Maurice M, Nogee LM, Inagaki N, Amselem S, Dubus JC, Rigourd V, Bremont F, Marguet C, Brouard J, de Blic J, Clement A, Epaud R, Guillot L
Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.
Hum Mol Genet. 2012 Feb 15;21(4):765-75. Epub 2011 Nov 7., [PMID:22068586]

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[hide] Epaud R, Jonard L, Ducou-le-Pointe H, Delestrain C, Fanen P, Guillot L, Flamein F
[Genetic disorders of surfactant].
Arch Pediatr. 2012 Feb;19(2):212-9. Epub 2012 Jan 9., [PMID:22236549]

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[hide] Engelbrecht S, Kaltenborn E, Griese M, Kern S
The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles.
FEBS Lett. 2010 Oct 22;584(20):4306-12. Epub 2010 Sep 21., [PMID:20863830]

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[hide] Crossno PF, Polosukhin VV, Blackwell TS, Johnson JE, Markin C, Moore PE, Worrell JA, Stahlman MT, Phillips JA 3rd, Loyd JE, Cogan JD, Lawson WE
Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPC.
Chest. 2010 Apr;137(4):969-73., [PMID:20371530]

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[hide] Nogee LM
Genetic Basis of Children's Interstitial Lung Disease.
Pediatr Allergy Immunol Pulmonol. 2010 Mar;23(1):15-24., [PMID:22087432]

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[hide] Park SK, Amos L, Rao A, Quasney MW, Matsumura Y, Inagaki N, Dahmer MK
Identification and characterization of a novel ABCA3 mutation.
Physiol Genomics. 2010 Jan 8;40(2):94-9. Epub 2009 Oct 27., [PMID:19861431]

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[hide] Whitsett JA, Wert SE, Weaver TE
Alveolar surfactant homeostasis and the pathogenesis of pulmonary disease.
Annu Rev Med. 2010;61:105-19., [PMID:19824815]

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[hide] Szczawinska-Poplonyk A, Breborowicz A, Langfort R
[Interstitial lung disease associated with surfactant protein B and C deficiencies].
Pneumonol Alergol Pol. 2010;78(3):224-8., [PMID:20461691]

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[hide] Abou Taam R, Jaubert F, Emond S, Le Bourgeois M, Epaud R, Karila C, Feldmann D, Scheinmann P, de Blic J
Familial interstitial disease with I73T mutation: A mid- and long-term study.
Pediatr Pulmonol. 2009 Feb;44(2):167-75., [PMID:19148933]

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[hide] Matsumura Y, Ban N, Inagaki N
Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.
Am J Physiol Lung Cell Mol Physiol. 2008 Oct;295(4):L698-707. Epub 2008 Aug 1., [PMID:18676873]

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[hide] Epaud R, Feldmann D, Guillot L, Clement A
[Lung diseases associated with inherited disorders of surfactant metabolism].
Arch Pediatr. 2008 Oct;15(10):1560-7. Epub 2008 Sep 19., [PMID:18804975]

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[hide] Shanklin DR, Mullins AC, Baldwin HS
Cerebropulmonary dysgenetic syndrome.
Exp Mol Pathol. 2008 Oct;85(2):112-6. Epub 2008 May 28., [PMID:18603241]

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[hide] Young LR, Nogee LM, Barnett B, Panos RJ, Colby TV, Deutsch GH
Usual interstitial pneumonia in an adolescent with ABCA3 mutations.
Chest. 2008 Jul;134(1):192-5., [PMID:18628224]

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[hide] Garmany TH, Wambach JA, Heins HB, Watkins-Torry JM, Wegner DJ, Bennet K, An P, Land G, Saugstad OD, Henderson H, Nogee LM, Cole FS, Hamvas A
Population and disease-based prevalence of the common mutations associated with surfactant deficiency.
Pediatr Res. 2008 Jun;63(6):645-9., [PMID:18317237]

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[hide] Doan ML, Guillerman RP, Dishop MK, Nogee LM, Langston C, Mallory GB, Sockrider MM, Fan LL
Clinical, radiological and pathological features of ABCA3 mutations in children.
Thorax. 2008 Apr;63(4):366-73. Epub 2007 Nov 16., [PMID:18024538]

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[hide] Karjalainen MK, Haataja R, Hallman M
Haplotype analysis of ABCA3: association with respiratory distress in very premature infants.
Ann Med. 2008;40(1):56-65., [PMID:18246475]

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[hide] Bullard JE, Nogee LM
Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation.
Pediatr Res. 2007 Aug;62(2):176-9., [PMID:17597647]

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[hide] Somaschini M, Nogee LM, Sassi I, Danhaive O, Presi S, Boldrini R, Montrasio C, Ferrari M, Wert SE, Carrera P
Unexplained neonatal respiratory distress due to congenital surfactant deficiency.
J Pediatr. 2007 Jun;150(6):649-53, 653.e1., [PMID:17517255]

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[hide] Bullard JE, Wert SE, Nogee LM
ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease.
Semin Perinatol. 2006 Dec;30(6):327-34., [PMID:17142158]

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[hide] Matsumura Y, Ban N, Ueda K, Inagaki N
Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
J Biol Chem. 2006 Nov 10;281(45):34503-14. Epub 2006 Sep 7., [PMID:16959783]

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[hide] Prestridge A, Wooldridge J, Deutsch G, Young LR, Wert SE, Whitsett JA, Nogee L
Persistent tachypnea and hypoxia in a 3-month-old term infant.
J Pediatr. 2006 Nov;149(5):702-706., [PMID:17095348]

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[hide] Nogee LM
Genetics of pediatric interstitial lung disease.
Curr Opin Pediatr. 2006 Jun;18(3):287-92., [PMID:16721150]

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[hide] Deterding R, Fan LL
Surfactant dysfunction mutations in children's interstitial lung disease and beyond.
Am J Respir Crit Care Med. 2005 Oct 15;172(8):940-1., [PMID:16216835]

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[hide] Bullard JE, Wert SE, Whitsett JA, Dean M, Nogee LM
ABCA3 mutations associated with pediatric interstitial lung disease.
Am J Respir Crit Care Med. 2005 Oct 15;172(8):1026-31. Epub 2005 Jun 23., [PMID:15976379]

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[hide] Wambach JA, Wegner DJ, Depass K, Heins H, Druley TE, Mitra RD, An P, Zhang Q, Nogee LM, Cole FS, Hamvas A
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
Pediatrics. 2012 Dec;130(6):e1575-82. doi: 10.1542/peds.2012-0918. Epub 2012 Nov 19., [PMID:23166334]

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[hide] Herber-Jonat S, Mittal R, Huppmann M, Hammel M, Liebisch G, Yildirim AO, Eickelberg O, Schmitz G, Hrabe de Angelis M, Flemmer AW, Holzinger A
Abca3 haploinsufficiency is a risk factor for lung injury induced by hyperoxia or mechanical ventilation in a murine model.
Pediatr Res. 2013 Oct;74(4):384-92. doi: 10.1038/pr.2013.127. Epub 2013 Jul 23., [PMID:23881110]

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[hide] Epaud R, Delestrain C, Louha M, Simon S, Fanen P, Tazi A
Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.
Eur Respir J. 2014 Feb;43(2):638-41. doi: 10.1183/09031936.00145213. Epub 2013 Oct 17., [PMID:24136335]

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[hide] Campo I, Zorzetto M, Mariani F, Kadija Z, Morbini P, Dore R, Kaltenborn E, Frixel S, Zarbock R, Liebisch G, Hegermann J, Wrede C, Griese M, Luisetti M
A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant.
Respir Res. 2014 Apr 15;15:43. doi: 10.1186/1465-9921-15-43., [PMID:24730976]

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[hide] Wambach JA, Casey AM, Fishman MP, Wegner DJ, Wert SE, Cole FS, Hamvas A, Nogee LM
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43. doi: 10.1164/rccm.201402-0342OC., [PMID:24871971]

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[hide] Panigrahy N, Poddutoor PK, Chirla DK
ATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome.
Indian Pediatr. 2014 Jul;51(7):579-80., [PMID:25031143]

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[hide] Coghlan MA, Shifren A, Huang HJ, Russell TD, Mitra RD, Zhang Q, Wegner DJ, Cole FS, Hamvas A
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
BMJ Open Respir Res. 2014 Dec 10;1(1):e000057. doi: 10.1136/bmjresp-2014-000057. eCollection 2014., [PMID:25553246]

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[hide] Zarbock R, Kaltenborn E, Frixel S, Wittmann T, Liebisch G, Schmitz G, Griese M
ABCA3 protects alveolar epithelial cells against free cholesterol induced cell death.
Biochim Biophys Acta. 2015 Jul;1851(7):987-95. doi: 10.1016/j.bbalip.2015.03.004. Epub 2015 Mar 25., [PMID:25817392]

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[hide] Mulugeta S, Nureki S, Beers MF
Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.
Am J Physiol Lung Cell Mol Physiol. 2015 Sep 15;309(6):L507-25. doi: 10.1152/ajplung.00139.2015. Epub 2015 Jul 17., [PMID:26186947]

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[hide] Paolini A, Baldassarre A, Del Gaudio I, Masotti A
Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3.
Int J Mol Sci. 2015 Aug 19;16(8):19631-44. doi: 10.3390/ijms160819631., [PMID:26295388]

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[hide] Peca D, Cutrera R, Masotti A, Boldrini R, Danhaive O
ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system.
Biochem Soc Trans. 2015 Oct 1;43(5):913-9. doi: 10.1042/BST20150100., [PMID:26517903]

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[hide] Chen YJ, Wambach JA, DePass K, Wegner DJ, Chen SK, Zhang QY, Heins H, Cole FS, Hamvas A
Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort.
World J Pediatr. 2015 Nov 7., [PMID:26547207]

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