ABCA3 p.Tyr1515*
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PMID: 24871971
[PubMed]
Wambach JA et al: "Genotype-phenotype correlations for infants and children with ABCA3 deficiency."
No.
Sentence
Comment
64
Five mutations were identified in more than five unrelated individuals: (1) p.E292V, (2) p.Y1515X, (3) IVS25-98 C .
X
ABCA3 p.Tyr1515* 24871971:64:91
status: NEW69 All of the 19 Middle Eastern infants with the p.Y1515X/p.Y1515X genotype for whom complete clinical information was known presented with severe neonatal RDS and died before 3 months of age (Subjects 22-40; see Table E1; two infant outcomes unknown).
X
ABCA3 p.Tyr1515* 24871971:69:48
status: NEWX
ABCA3 p.Tyr1515* 24871971:69:57
status: NEW
PMID: 26295388
[PubMed]
Paolini A et al: "Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3."
No.
Sentence
Comment
111
In particular, we focused on the following mutations: p.E292V, p.E690K, p.R1333G, p.W1142X, p.Y1515X, and p.L1553P.
X
ABCA3 p.Tyr1515* 26295388:111:94
status: NEW114 p.E690K reside in the NBD1, whereas p.Y1515X and p.L1553P are localized in the NBD2.
X
ABCA3 p.Tyr1515* 26295388:114:38
status: NEW