ABCMdb

PMID: 11320094

Bungert S, Molday LL, Molday RS
Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites.
J Biol Chem. 2001 Jun 29;276(26):23539-46. Epub 2001 Apr 24., [PubMed]

Sentences

No. Mutations Sentence Comment

57 ABCA4 p.Thr506Ala ABCA4 p.Thr446Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser100Ala ABCA4 p.Ser1590Ala ABCA4 p.Thr417Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1471Ala ABCR(èc;8) had mutations in eight N-linked glycosylation sites within two ECDs at the following positions: Asn-98 (S100A), Asn-415 (T417A), Asn-444 (T446A), Asn-504 (T506A), Asn-1469 (T1471A), Asn-1529 (S1531A), Asn-1588 (S1590A), and Asn-1662 (T1664A) as shown in Fig. 2. Login to comment 58 ABCA4 p.Thr506Ala ABCA4 p.Thr446Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser100Ala ABCA4 p.Ser1590Ala ABCA4 p.Thr417Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1471Ala ABCR(⌬8) had mutations in eight N-linked glycosylation sites within two ECDs at the following positions: Asn-98 (S100A), Asn-415 (T417A), Asn-444 (T446A), Asn-504 (T506A), Asn-1469 (T1471A), Asn-1529 (S1531A), Asn-1588 (S1590A), and Asn-1662 (T1664A) as shown in Fig. 2. Login to comment 78 ABCA4 p.Thr506Ala ABCA4 p.Ser100Ala ABCA4 p.Thr417Ala (S100A), Asn-415 (T417A), Asn-444 (T446), and Asn-504 (T506A) were constructed as described above and are listed in Table I. The DNA sequences of all constructs were determined to verify the presence of the desired mutation and the absence of random mutations. Login to comment 79 ABCA4 p.Thr506Ala ABCA4 p.Ser100Ala ABCA4 p.Thr417Ala (S100A), Asn-415 (T417A), Asn-444 (T446), and Asn-504 (T506A) were constructed as described above and are listed in Table I. The DNA sequences of all constructs were determined to verify the presence of the desired mutation and the absence of random mutations. Login to comment 153 ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr506Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Thr446Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser1531Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser100Ala ABCA4 p.Ser1590Ala ABCA4 p.Ser1590Ala ABCA4 p.Ser1590Ala ABCA4 p.Ser1590Ala ABCA4 p.Ser1590Ala ABCA4 p.Ser1590Ala ABCA4 p.Ser1590Ala ABCA4 p.Ser1590Ala ABCA4 p.Ser1590Ala ABCA4 p.Ser1590Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr417Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1664Ala ABCA4 p.Thr1471Ala ABCA4 p.Thr1471Ala ABCA4 p.Thr1471Ala ABCA4 p.Thr1471Ala ABCA4 p.Thr1471Ala ABCA4 p.Thr1471Ala ABCA4 p.Thr1471Ala ABCA4 p.Thr1471Ala ABCA4 p.Thr1471Ala ABCA4 p.Thr1471Ala TABLE I N-linked glycosylation mutants Protein N-Linked glycosylation sites Mutations ABCR(WT) Asn-98, Asn-415, Asn-444, Asn-504 None Asn-1469, Asn-1529, Asn-1588, Asn-1662 ABCR(⌬8) None S100A, T417A, T446A, T506A T1471A, S1531A, S1590A, T1664A ABCR(⌬4N) Asn-1469, Asn-1529, Asn-1588, Asn-1662 S100A, T417A, T446A, T506A ABCR(⌬4C) Asn-98, Asn-415, Asn-444, Asn-504 T1471A, S1531A, S1590A, T1664A ABCR(⌬7-N1469) Asn-1469 S100A, T417A, T446A, T506A T1471A, S1531A, S1590A S100A, T417A, T446A, T506A ABCR(⌬7-N1529) Asn-1529 T1471A, S1531A, T1664A S100A, T417A, T446A, T506A ABCR(⌬7-N1588) Asn-1588 T1471A, S1590A, T1664A ABCR(⌬7-N1662) Asn-1662 S100A, T417A, T446A, T506A S1531A, S1590A, T1664A N-tr-ABCR (WT) Asn-98, Asn-415, Asn-444, Asn-504 None N-tr-ABCR(⌬4) None S100A, T417A, T446A, T506A N-tr-ABCR(⌬3-N98) Asn-98 T417A, T446A, T506A N-tr-ABCR(⌬3-N415) Asn-415 S100A, T446A, T506A N-tr-ABCR(⌬3-N444) Asn-444 S100A, T417A, T506A N-tr-ABCR(⌬3-N504) Asn-504 S100A, T417A, T446A DISCUSSION Membrane Topology and Structural Features of ABCR- Computer-derived hydropathy profiles and comparative protein analysis serve as a useful starting point in developing working models for the topology of novel membrane proteins. Login to comment 222 ABCA4 p.Ser100Pro A scan of disease-causing mutations reveals that one mutation (S100P) in a N-linked glycosylation site has been found in a patient with Stargardt`s disease (38). Login to comment 224 ABCA4 p.Ser100Pro Analysis of the expression level and ATPase activity of the S100P mutant may provide insight into the effect of this mutation on the structure-function relationships of ABCR as has been carried out for other disease-linked mutations (27). Login to comment 231 ABCA4 p.Cys1488Arg ABCA4 p.Cys54Tyr ABCA4 p.Cys1490Tyr ABCA4 p.Cys75Gly Several missense mutations in cysteine residues within ECD-1 (C54Y,C75G) and ECD-2 (C1488R,C1490Y) have been linked to Stargardt disease (13, 19, 38, 39). Login to comment