ABCMdb

ABCC7 p.Phe587Ile

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Publications

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. Login to comment

PMID: 23791427 [PubMed] Jabr S et al: "Quantification of major urinary metabolites of PGE2 and PGD2 in cystic fibrosis: correlation with disease severity."

No. Sentence Comment

113 Mutations Mutation class Severity Number Pancreatic sufficiency (n) W128X/W128X I/I Severe 1 0 I507/Q890X I/I Severe 1 0 F508del/G542X II/I Severe 2 0 F508del/2188AA4G II/I Severe 1 0 F508del/N1303K II/I Severe 3 0 F508del/1677delTA II/I Severe 1 0 F508del/2188AA4G II/I Severe 1 0 F508del/F508del II/II Severe 10 0 F508del/Q890X II/II Severe 1 0 F508del/E1308X II/II Severe 1 0 F508del/5T-12TG II/III Moderate 2 0 G542X/G85V I/III Moderate 1 0 F508del/124del23kbp II/III Moderate 1 0 G542X/M1137V I/III Moderate 1 1 I507/L206W I/IV Mild 1 0 F508del/L206W I/IV Mild 4 2 711+1G4L206W I/IV Mild 1 1 N1303K/3272-26A4G I/IV Mild 1 1 F508del/F587I II/V Mild 1 1 n&#bc;Number. Login to comment