ABCA3 p.Asn1076Lys
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PMID: 15976379
[PubMed]
Bullard JE et al: "ABCA3 mutations associated with pediatric interstitial lung disease."
No.
Sentence
Comment
87
The E292V mutation was not found on 200 control alleles, indicating that it is TABLE 1. CHARACTERISTICS OF OLDER CHILDREN WITH CHRONIC LUNG DISEASE Patient 1 Patient 2 Patient 3 Patient 4 Race White White White White Age of symptoms Birth Ͻ 1 yr Ͻ 1 yr Birth Sex Female Female Male Male Lung biopsy DIP DIP DIP DIP Age at enrollment 23 yr 14 yr 10 yr 11 yr Current age 32 yr 16 yr 12 yr 11 yr Family history No Yes No No Outcome Lung transplant Alive Alive Alive ABCA3 mutations E292V/N1076K E292V/c3704-1 GϾT E292V/c1742-9 GϾA None Maternal allele NA c3704-1 GϾT E292V NA Paternal allele NA NA c1742-9 GϾA NA Definition of abbreviations: DIP ϭ desquamative interstitial pneumonitis; NA ϭ not available.
X
ABCA3 p.Asn1076Lys 15976379:87:499
status: NEW105 In addition to the E292V mutation, five additional missense variants (N1076K, G1302E, P1301L, T1114M, E690K) and three splice junction site mutations (c3704-1 GϾT, c1742-9 GϾA, c1612-2 AϾG) that would likely alter RNA splicing were identified.
X
ABCA3 p.Asn1076Lys 15976379:105:70
status: NEW