ABCA3 p.Leu941Pro
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 22337229
[PubMed]
Agrawal A et al: "An intronic ABCA3 mutation that is responsible for respiratory disease."
No.
Sentence
Comment
80
However, the mechanism to account for this larger aberrant transcript with an additional 249 bases Table 1. Characteristics of subjects with one ABCA3 mutation Patient Ethnicity Presentation Allele 1 mutation Allele 2 mutation Findings consistent with ABCA3 deficiency Outcome A Caucasian Newborn, RDS p.E690K IVS25-98T Case patient; lung histopathology and EM Died B Caucasian RDS p.L941P IVS25-98T Family history of sibling with fatal RDS Died C Caucasian 8 y/old, ILD L212M ?
X
ABCA3 p.Leu941Pro 22337229:80:391
status: NEW
PMID: 21867529
[PubMed]
Peca D et al: "Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect."
No.
Sentence
Comment
10
Genetic studies identified a heterozygous ABCA3 mutation, L941P, previously unreported.
X
ABCA3 p.Leu941Pro 21867529:10:58
status: NEW71 ABCA3 sequencing showed a mono-allelic variation, c3381 T>C, leading to the aminoacidic sequence change L941P, not previously reported, which was carried by the father and was not present in 100 control alleles, hence to be considered a novel heterozygous missense mutation.
X
ABCA3 p.Leu941Pro 21867529:71:104
status: NEW70 ABCA3 sequencing showed a mono-allelic variation, c3381 T>C, leading to the aminoacidic sequence change L941P, not previously reported, which was carried by the father and was not present in 100 control alleles, hence to be considered a novel heterozygous missense mutation.
X
ABCA3 p.Leu941Pro 21867529:70:104
status: NEW