ABCMdb

ABCC7 p.Tyr577Phe

None has been submitted yet.

Publications

PMID: 12719375 [PubMed] Pagani F et al: "New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12."

No. Sentence Comment

89 We then studied the pattern of splicing of a minigene with the missense mutations D565G, G576A and Y577F, the latter associated to classical CF. Login to comment
92 Instead, the nearby Y577F mutation found in classical CF did not produce aberrant skipping but surprisingly increased exon inclusion in comparison with WTB (Fig. 2C). Login to comment
93 This indicates that, unlike G565A and D565G, the disease-causing effect of Y577F cannot be attributed to a splicing abnormality but rather to a protein defect. Login to comment
97 To evaluate their role in CFTR exon 12 we transfected normal and the three D565G, G576A and Y577F minigenes in different cell lines (Fig. 3A). Login to comment
98 For each cell line tested, the three variants cause comparable changes in splicing efficiency, with D565G and G576A inducing exon skipping and Y577F exon inclusion. Login to comment
124 A total number of 26 hybrid minigenes were analysed containing site-directed mutations at two target sequences of the exon: the AAGATGC sequence at the 50 end from position 12 to 18, which includes D565G at position 15, and a central GGATAC sequence from position 47 to 52 which contains G576A and Y577F of position 48 and 51, respectively (Fig. 4). Login to comment
157 It is interesting to note that changes in the codon following G576A result in the classical CF mutation Y577F that produces a non-functional protein, but splicing is not significantly altered. Login to comment

PMID: 16126774 [PubMed] Morea A et al: "Gender-sensitive association of CFTR gene mutations and 5T allele emerging from a large survey on infertility."

No. Sentence Comment

47 CFTR gene alterations were first scored by PCR and reverse dot blot (Chehab and Wall, 1992), targeted to the detection of the following mutations: ∆F508, G85E, 541∆C, D110H, R117H, 621+1G→T, 711+5G→A, R334W, R334Q, T338I, 1078∆T, R347H, R352Q, ∆I507, 1609∆CA, E527G, 1717-1G→A, 1717-8G→A, G542X, R347P, S549N, S549R A→C, Q552X, R553X, A559T, D579G, Y577F, E585X, 1898+3A→G, 2183AA→G, R709X, 2789+5G→A, 3132∆TG, 3272-26A→G, L1077P, L1065P, R1070Q, R1066H, M1101K, D1152H, R1158X, R1162X, 3849+10KbC→T, G1244E, W1282R, W1282X, N1303K and 4016∇T. Login to comment
101 Mutations Women (987) Men (867) N IVS8-T genotype N IVS8-T genotype ∆F508 16 15(7/9); 1(9/9) 26 15(7/9)*; 11(5/9) N1303K 4 4(7/9) 1 7/7 3849+10KbC→T 1 5/7 1 5/7 G542X 2 7/9 1 7/9† 2183AA→G 2 7/7 4 7/7 R553X 2 7/7 0 - R1162X 2 7/7 6 5(7/7)‡; 1(7/9) D1152H 0 - 3 2(7/7); 7/9† 711+5G→A 0 - 3 7/7 1717-8G→A 0 - 1 5/7 1717-1G→A 1 7/7 0 - Y577F 0 - 1 7/7 R117H 1 7/7 1 7/9* 621+3A→G 1 7/9 0 - W1282X 1 7/7 0 - deltaI1507 1 7/7 0 - T3381 1 7/7 1 7/9 R1066H 0 - 1 7/7§ R334Q 0 - 1 7/9 2789+5G→A 1 7/7 2 7/7‡§ Total 36¶ 53¶ records, all these mutations are normally found in trans with respect of 5T. Login to comment

PMID: 16132229 [PubMed] Eudes R et al: "Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations."

No. Sentence Comment

189 The Y577F mutation has been shown to be associated with severe lung disease and elevated sweat chloride levels (http: //www.genet.sickkids.on.ca/cftr). Login to comment

PMID: 19910374 [PubMed] Haque A et al: "Functional properties and evolutionary splicing constraints on a composite exonic regulatory element of splicing in CFTR exon 12."

No. Sentence Comment

137 Western blot analysis of recovered proteins after pulldown of two naturally occurring nonsense CFTR mutations (G48C/G576A and A51T/Y577F) compared with CFTR Ex. 12 wild type. Login to comment

PMID: 15463919 [PubMed] Amaral MD et al: "Quantitative methods for the analysis of CFTR transcripts/splicing variants."

No. Sentence Comment

164 D565G, G576A and Y577Y induce exon skipping, while Y577F increases the percentage of exon 12 inclusion. Login to comment
174 Another missense mutation, Y577F, reported in a patient with severe CF [23], increased the amount of transcript with this exon in comparison to non-CF controls (Fig. 1c), suggesting that this amino acid substitution was directly responsible for the severe phenotype. Login to comment