ABCD1 p.Leu684Pro
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PMID: 25118695
[PubMed]
Chuang CY et al: "Involvement of the carboxyl-terminal region of the yeast peroxisomal half ABC transporter Pxa2p in its interaction with Pxa1p and in transporter function."
No.
Sentence
Comment
81
We indeed found ALD disease-related point mutations in the CT2 of ALDP: W679R and L684P.
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ABCD1 p.Leu684Pro 25118695:81:82
status: NEW170 The conserved amino acids (Y726 and F731) in the CT2 of Pxa2p corresponded to the point mutations W679R and L684P in ALD.
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ABCD1 p.Leu684Pro 25118695:170:108
status: NEW199 The mutations Y726L and F731A in the CT2 of Pxa2p, shown in the present study to disrupt Pxa1_NBD/Pxa2_NBD interaction, correspond to the mutations W679R and L684P in the CT2 of human ALDP.
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ABCD1 p.Leu684Pro 25118695:199:158
status: NEW203 An L684P mutation was recorded only in unpublished data by Dr. S.J.S. Steinberg.
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ABCD1 p.Leu684Pro 25118695:203:3
status: NEW215 doi:10.1371/journal.pone.0104892.g009 Y726L and F731A in Pxa2p on its protein interaction with Pxa1p may provide a significant reference for ALDP protein with W679R and L684P mutations.
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ABCD1 p.Leu684Pro 25118695:215:170
status: NEW216 Thus, the effects of the W679R and L684P mutations in ALDP on protein-protein interaction are worth determining in future.
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ABCD1 p.Leu684Pro 25118695:216:35
status: NEW