ABCA4 p.Pro2180Leu
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PMID: 24097981
[PubMed]
Quazi F et al: "Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
No.
Sentence
Comment
65
Mutations introduced by overlap extension PCR using Pfu AD DNA polymerase in ABCA1 included S100C, W590S, F593L, N935S, T929I, C1477R, T1512M, R2081W, and P2150L.
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ABCA4 p.Pro2180Leu 24097981:65:148
status: NEW66 Corresponding ABCA4 mutations determined by amino acid alignment with ABCA1 included S100P, W605S, F608L, T959I, N965S, C1502R, T1537M, R2107P, and P2180L.
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ABCA4 p.Pro2180Leu 24097981:66:148
status: NEW220 Error bars show S.E. Lipid Transport Activity of ABCA Transporters 34420 gardt disease (S100P, F608L, N965S, T959I, T1537M, and R2107P) (Fig. 6A, red).
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ABCA4 p.Pro2180Leu 24097981:220:83
status: NEW222 These two residues were replaced with serine and leucine, respectively, (W605S and P2180L) corresponding to the disease-causing substitutions in ABCA1.
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ABCA4 p.Pro2180Leu 24097981:222:83
status: NEW232 ABCA4 variants showed a similar ATPase activity profile as the ABCA1 mutants with the exception of the T1537M mutation of ABCA4, which was significantly lower than the corresponding T1512M mutant in ABCA1.
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ABCA4 p.Pro2180Leu 24097981:232:254
status: NEW234 As shown in Fig. 8, A and B, the Fl-PC flippase activity of the ABCA1 mutants and the Fl-PE flippase activity of ABCA4 mutants have a similar profile with the ABCA1 variants C1477R, T1512M, and P2150L and corresponding ABCA4 variants C1502R, T1537M, and P2180L showing transport activities ranging from 60 to 80% of the WT protein and the other mutants showing reduced activity in the range of 20-40% of the WT protein.
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ABCA4 p.Pro2180Leu 24097981:234:254
status: NEW295 The ABCA1/ABCA4 mutants in the ECD1 (S100C/S100P, W590S/ W605S, and F593L/F608L) displayed the lowest activities (20-30% WT), whereas those in the ECD2 (C1477R/C1502R and T1512M/T1537M) and the P2150L/P2180L mutants in the C terminus showed the highest activities (60-100% WT).
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ABCA4 p.Pro2180Leu 24097981:295:201
status: NEW68 Corresponding ABCA4 mutations determined by amino acid alignment with ABCA1 included S100P, W605S, F608L, T959I, N965S, C1502R, T1537M, R2107P, and P2180L.
X
ABCA4 p.Pro2180Leu 24097981:68:148
status: NEW225 These two residues were replaced with serine and leucine, respectively, (W605S and P2180L) corresponding to the disease-causing substitutions in ABCA1.
X
ABCA4 p.Pro2180Leu 24097981:225:83
status: NEW237 As shown in Fig. 8, A and B, the Fl-PC flippase activity of the ABCA1 mutants and the Fl-PE flippase activity of ABCA4 mutants have a similar profile with the ABCA1 variants C1477R, T1512M, and P2150L and corresponding ABCA4 variants C1502R, T1537M, and P2180L showing transport activities ranging from 60 to 80% of the WT protein and the other mutants showing reduced activity in the range of 20-40% of the WT protein.
X
ABCA4 p.Pro2180Leu 24097981:237:254
status: NEW298 The ABCA1/ABCA4 mutants in the ECD1 (S100C/S100P, W590S/ W605S, and F593L/F608L) displayed the lowest activities (20-30% WT), whereas those in the ECD2 (C1477R/C1502R and T1512M/T1537M) and the P2150L/P2180L mutants in the C terminus showed the highest activities (60-100% WT).
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ABCA4 p.Pro2180Leu 24097981:298:201
status: NEW293 The ABCA1/ABCA4 mutants in the ECD1 (S100C/S100P, W590S/ W605S, and F593L/F608L) displayed the lowest activities (2030% WT), whereas those in the ECD2 (C1477R/C1502R and T1512M/T1537M) and the P2150L/P2180L mutants in the C terminus showed the highest activities (60-100% WT).
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ABCA4 p.Pro2180Leu 24097981:293:200
status: NEW