ABCD1 p.Thr693Met
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PMID: 11748843
[PubMed]
Kemp S et al: "ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations."
No.
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174
P560S 7 1678C>T n.d. # P560L 7 1679C>T Reduced P560L 7 1679C>T Reduced fs I588 7 1765delC n.d. # R591P 7 1772G>C Absent S606L 8 1817C>T Present E609K 8 1825G>A Absent E609K 8 1825G>A Absent R617C 8 1849C>T Absent R617H 8 1850G>A Absent R617H 8 1850G>A Absent A626T 9 1876G>A Absent A626T 9 1876G>A Absent A626D 9 1877C>A n.d. # E630G 9 1889A>G n.d. # C631Y 9 1892G>A n.d. # T632I 9 1895C>T n.d. # V635M 9 1903G>A n.d. # L654P 9 1961T>C Absent # R660W 9 1978C>T Absent fs L663 9 1988insT n.d. # fs L663 IVS 9 IVS9+1g>a n.d. # fs L663 IVS 9 IVS9-1g>a n.d. # H667D 10 1999C>G Absent # T668I 10 2003C>T Absent # T693M 10 2078C>T Present # exon1-5del 1-5 n.d. # The 47 mutations marked with a # are novel unique mutations reported for the first time in this paper.
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ABCD1 p.Thr693Met 11748843:174:608
status: NEW
PMID: 22045812
[PubMed]
Hillebrand M et al: "Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane."
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231
We analyzed, whether five missense mutations in the ABCD1 gene known to be associated with near normal ALDP protein amounts (G116R, S514N, G607D, G629H, and T693M) would induce edgetic perturbations by altering ALDP homo-oligomerization or the interaction of ALDP with FASN, ACLY, or FATP4 (Fig. 5).
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ABCD1 p.Thr693Met 22045812:231:157
status: NEW273 WT ALDP was compared with ALDP constructs representing disease-causing missense mutations (G116R, S514N, G607D, G629H, and T693M); homomeric interactions as well as interactions with FASN, ACLY, and FATP4 were determined.
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ABCD1 p.Thr693Met 22045812:273:123
status: NEW227 We analyzed, whether five missense mutations in the ABCD1 gene known to be associated with near normal ALDP protein amounts (G116R, S514N, G607D, G629H, and T693M) would induce edgetic perturbations by altering ALDP homo-oligomerization or the interaction of ALDP with FASN, ACLY, or FATP4 (Fig. 5).
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ABCD1 p.Thr693Met 22045812:227:157
status: NEW229 Conversely, S514N and G607D increased the BRET ratio for the interaction of ALDP with FASN, whereas G116R had the same effect on the interaction between ALDP and ACLY.
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ABCD1 p.Thr693Met 22045812:229:157
status: NEW269 WT ALDP was compared with ALDP constructs representing disease-causing missense mutations (G116R, S514N, G607D, G629H, and T693M); homomeric interactions as well as interactions with FASN, ACLY, and FATP4 were determined.
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ABCD1 p.Thr693Met 22045812:269:123
status: NEW271 WT ALDP was compared with ALDP constructs representing disease-causing missense mutations (G116R, S514N, G607D, G629H, and T693M); homomeric interactions as well as interactions with FASN, ACLY, and FATP4 were determined.
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ABCD1 p.Thr693Met 22045812:271:123
status: NEW