ABCMdb

ABCC7 p.Leu541Pro

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Publications

PMID: 10050655 [PubMed] Lissens W et al: "Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens."

No. Sentence Comment

4 CFTR mutations or the IVS-5T variant were found neither in the remaining four patients with associated renal abnormalities nor in the spouses of the 20 CBAVD patients. However, one patient was homozygous for a leucine to proline substitution at amino acid position 541 (L541P) of the CFTR. Login to comment
35 Screening for the presence of the L541P change was done by restriction enzyme digestion of the PCR amplified exon 11 (with primers 11i5 and 11i3) with ScrFI. Login to comment
41 Screening for the presence of the 1754T→C substitution (amino acid change leucine to proline at position 541 or L541P) in exon 11 of the CFTR gene by ScrFI restriction analysis. Login to comment
54 PCR amplification and sequencing of the whole coding region of exon 11 showed that he was homozygous for a T to C substitution at cDNA position 1754 of the CFTR (1754T→C), predicting an amino acid change of leucine to proline at amino acid position 541 (L541P). Login to comment
56 Since this substitution would probably not be detected in heterozygotes with a normal and an L541P allele, another approach, based on the creation of an additional ScrFI restriction site in the PCR fragment defined by primers 11i5 and 11i3, was used to screen for it in the other individuals (Figure 1). Login to comment
63 bIncluding the L541P homozygote and heterozygote female. Login to comment
65 The L541P change was found on a 7T background. Login to comment
83 These results are in agreement with a proposed different, but as yet unidentified, aetiology of the condition of CBAVD in these patients. However, one patient was homozygous for an L541P substitution in the CFTR gene, a change that so far has not been described either as a polymorphism or as a mutation. Login to comment
84 The L541P substitution is in the first nucleotide binding fold of the CFTR and would be localized, according to the model of Hyde et al. (1990), in the third β-sheet of the ATP-binding cassette (ABC) of the protein. Login to comment

PMID: 16103129 [PubMed] Wiszniewski W et al: "ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies."

No. Sentence Comment

137 We hypothesized that the disease-associated missense mutations [L541P; A1038V], R602W and C1490Y could exert a possible effect on protein processing as this mechanism, which prevents altered proteins from locating to its physiologic compartment, was documented for other ABC transporters in related diseases including cystic fibrosis (CFTR) and Tangier disease (ABCA1). Login to comment

PMID: 22326559 [PubMed] Poulou M et al: "Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene."

No. Sentence Comment

37 The azoospermic male (case 3) (sweat chloride test 90 meq/L) was compound heterozygote for p.Asn1303Lys [N1303K] and the novel variant p.Leu541Pro, in trans, described as pathogenic by the four in silico methods, and predicted to alter enhancer and silencer motifs (Table 2). Login to comment
38 In this case we can conclude that p.Leu541Pro in combination with a severe mutation will result in a CFTR-related phenotype. Login to comment
59 Case Exon or intron (legacy) Nucleotide change Mutation Other findings Polyphen-2 SIFT Pmut Mutation T@sting Phenotype 1 4 (4) c.405_406dupAC p.Leu136HisfsX18 p.F508del (in trans) N/A N/A N/A Disease causing Classic CF 2 23 (20) c.3815_3816delTG p.Ser1273LeufsX28 p.F508del (in trans) N/A N/A N/A Disease causing Classic CF 3 12 (11) c.1622TNC p.Leu541Pro p.N1303K (in trans) Prob. Dam. NT 0.00 Path. (6) Disease causing Azoospermia 4 17 (15) c.2806CNA p.Pro936Thr p.L1227L Prob. Dam. NT 0.03 Path. (4) Disease causing Inadequate weight gain 5 9 (8) c.1133ANG p.Gln378Arg Prob. Dam. T 0.11 Neut. Login to comment
72 Mutation Nucleotide change ESEfinder (WT/MUT) HSF (WT/MUT) Mutation T@ster (WT/MUT) p.L541P c.1622TNC Increased score for 5SS_U2_human (3.48/5.16)/increased score for SC35 (3.48/3.89) Creation of ESE motifs/creation and disruption of ESS motifs Donor gained (0.59) p.P936T c.2806CNA Decreased score for 5SS_U2_human (4.07/3.97)/decreased score for SC35 (4.00/2.72) Increased branch point motif (53.55/83.18)/disruption of ESE motifs No change on splice sites p.Q378R c.1133ANG No change Disruption of ESE motifs/creation of ESS motifs Donor gained (0.94) p.S945Y c.1484CNA Change for SRp40 best hit (4.6/5.76) Disruption of ESE motifs/disruption of ESS motifs Donor increased (0.30/0.91) p.M1R c.2TNG Reduced score for SRp55 (4.34/3.51) Disruption of ESE motifs Acceptor lost/donor increased (0.48 /0.56) p.M595V c.1783ANG No change Donor ss increased (46.9/73.74) if used causes exon skipping. Login to comment
74 Mutation Nucleotide change ESEfinder (WT/MUT) HSF (WT/MUT) Mutation T@ster (WT/MUT) p.L541P c.1622TNC Increased score for 5SS_U2_human (3.48/5.16)/increased score for SC35 (3.48/3.89) Creation of ESE motifs/creation and disruption of ESS motifs Donor gained (0.59) p.P936T c.2806CNA Decreased score for 5SS_U2_human (4.07/3.97)/decreased score for SC35 (4.00/2.72) Increased branch point motif (53.55/83.18)/disruption of ESE motifs No change on splice sites p.Q378R c.1133ANG No change Disruption of ESE motifs/creation of ESS motifs Donor gained (0.94) p.S945Y c.1484CNA Change for SRp40 best hit (4.6/5.76) Disruption of ESE motifs/disruption of ESS motifs Donor increased (0.30/0.91) p.M1R c.2TNG Reduced score for SRp55 (4.34/3.51) Disruption of ESE motifs Acceptor lost/donor increased (0.48 /0.56) p.M595V c.1783ANG No change Donor ss increased (46.9/73.74) if used causes exon skipping. Login to comment