ABCA3 p.Trp1148*
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PMID: 18676873
[PubMed]
Matsumura Y et al: "Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease."
No.
Sentence
Comment
178
Recently, we identified a novel compound heterozygous mutation (maternal T1114A and paternal W1148X) from a Japanese boy with respiratory distress from age 18 mo (37).
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ABCA3 p.Trp1148* 18676873:178:93
status: NEW232 Accordingly, E292V, E690K, and T1114M are type II mutations.
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ABCA3 p.Trp1148* 18676873:232:102
status: NEW235 Although an exception has been identified in a Japanese patient with a type I/type II ABCA3 mutation (W1148X/T1114A) (37), the moderately preserved lipid transport function of the E292V mutant protein may underlie the generally milder phenotype of pILD patients.
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ABCA3 p.Trp1148* 18676873:235:102
status: NEW252 Genotype-phenotype correlation for ABCA3 mutation ABCA3 Mutation Age of Symptoms Phenotype Ref. W1142X W1142X Neonate FSD 27 L101P L101P Neonate FSD 27 L1553P L1553P Neonate FSD 27 Ins1518 L1580P Neonate FSD 27 L982P G1221S Neonate FSD 27 E292V T1114M Neonate pILD 4 E292V E690K 5 or 7 yr pILD 4 W1148X T1114A 12 mo pILD 37 Type I and type II ATP binding cassette A3 (ABCA3) mutations are shown in italics and roman, respectively.
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ABCA3 p.Trp1148* 18676873:252:296
status: NEW174 Recently, we identified a novel compound heterozygous mutation (maternal T1114A and paternal W1148X) from a Japanese boy with respiratory distress from age 18 mo (37).
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ABCA3 p.Trp1148* 18676873:174:93
status: NEW249 Genotype-phenotype correlation for ABCA3 mutation ABCA3 Mutation Age of Symptoms Phenotype Ref. W1142X W1142X Neonate FSD 27 L101P L101P Neonate FSD 27 L1553P L1553P Neonate FSD 27 Ins1518 L1580P Neonate FSD 27 L982P G1221S Neonate FSD 27 E292V T1114M Neonate pILD 4 E292V E690K 5 or 7 yr pILD 4 W1148X T1114A 12 mo pILD 37 Type I and type II ATP binding cassette A3 (ABCA3) mutations are shown in italics and roman, respectively.
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ABCA3 p.Trp1148* 18676873:249:296
status: NEW
PMID: 17618459
[PubMed]
Yokota T et al: "Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress."
No.
Sentence
Comment
4
Analysis of the ATP-binding cassette transporter A3 (ABCA3; OMIM 601615) gene showed a compound heterozygous mutation from paternal W1148X and maternal T1114A.
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ABCA3 p.Trp1148* 17618459:4:132
status: NEW27 Direct sequence analysis of ABCA3 in the patient revealed a compound heterozygous mutation, W1148X on the paternal allele and T1114A on the maternal allele.
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ABCA3 p.Trp1148* 17618459:27:92
status: NEW28 In vitro study showed that the T1114A mutant had moderately preserved ATP-hydrolysis activity (51% of wild type) with normal intracellular localization, while the W1148X mutant had impaired intracellular localization.
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ABCA3 p.Trp1148* 17618459:28:163
status: NEW29 W1148X is a type I, loss-of-function mutation (abnormal intracellular localization) and T1114A is a type II mutation (normal intracellular localization with decreased ATP-hydrolysis activity) [2].
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ABCA3 p.Trp1148* 17618459:29:0
status: NEW