ABCA1 p.Ala665Thr
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PMID: 16959783
[PubMed]
Matsumura Y et al: "Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency."
No.
Sentence
Comment
259
Although further confirmation of this interaction might be provided by mutational analysis of Trp-1554, many disease-related mutations at helix 6 and helix 7 of NBDs such as R2106C and E2131K in ABCA4 (44-47), F587I and L610S in ABCC7/CFTR (48-50), and A665T in ABCB3/TAP2 (51) (Fig. 8A) support the importance of these helices for the function of the ABC transporter.
X
ABCA1 p.Ala665Thr 16959783:259:253
status: NEW257 Although further confirmation of this interaction might be provided by mutational analysis of Trp-1554, many disease-related mutations at helix 6 and helix 7 of NBDs such as R2106C and E2131K in ABCA4 (44-47), F587I and L610S in ABCC7/CFTR (48-50), and A665T in ABCB3/TAP2 (51) (Fig. 8A) support the importance of these helices for the function of the ABC transporter.
X
ABCA1 p.Ala665Thr 16959783:257:253
status: NEW