ABCA3 p.Pro193Arg
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PMID: 17660803
[PubMed]
Bruder E et al: "Ultrastructural and molecular analysis in fatal neonatal interstitial pneumonia caused by a novel ABCA3 mutation."
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3
We studied lung biopsy samples of two siblings with a novel homozygous ABCA3 mutation at nucleotide position 578 (c.578C4G), leading to a Pro193Arg amino-acid exchange, who died at 55 and 105 days of age.
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ABCA3 p.Pro193Arg 17660803:3:138
status: NEW52 The patient was found to be homozygous for a point mutation of base pair 578 C4G in exon 7 (c.578C4G, numbering beginning at the ATG start as given in mRNA NM_001089.1), resulting in amino-acid exchange Pro193Arg (Figure 5).
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ABCA3 p.Pro193Arg 17660803:52:203
status: NEW96 The red circle indicates the novel mutation Pro193Arg found in this study, located in the first extracellular domain.
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ABCA3 p.Pro193Arg 17660803:96:44
status: NEW107 This ABCA3 mutation has not been described previously.8,10 Proline is known to have a strong structural effect due to its long side chain and is therefore also referred to as 'helix breaker`.33 As a consequence, the amino-acid exchange Pro193Arg implies an alteration of secondary molecule structure and is predicted to result in massive functional impairment of ABCA3.
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ABCA3 p.Pro193Arg 17660803:107:236
status: NEW109 The conventional and ultrastructural morphologic findings in our patients correlate with a severe phenotype associated with homozygous Pro193Arg ABCA3 gene mutation.
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ABCA3 p.Pro193Arg 17660803:109:135
status: NEW110 Absence of respiratory symptoms in the three Pro193Arg heterozygous adult patients implies sufficiently retained ABCA3 protein function in the heterozygous state.
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ABCA3 p.Pro193Arg 17660803:110:45
status: NEW