ABCMdb

ABCC7 p.Phe533Leu

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Publications

PMID: 10834512 [PubMed] Kambouris M et al: "Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations."

No. Sentence Comment

64 CFTR exons 4, 10, 11 from 100 normal individuals (200 chromosomes) were screened to evaluate whether the novel missense mutations found in these exons (H139L in exon 4 and F533L in exon 11) were neutral polymorphisms rather than pathogenic mutations. Login to comment
65 Neither the H139L (exon 4) nor the F533L (exon 11) mutations were detected among the normal individuals suggesting that they indeed represent pathogenic sequence changes. Login to comment
88 Two mutations resulted in amino acid substitutions (H139L and F533L). Login to comment
113 2 Total: 8 12% Exon 11 1729T ® C F533L 1a [?] Login to comment
115 1 Total: 8 11% Exon 19 3661A ® T K1177X ± protein truncation 1 2 (private mutation) 3832A ® G I1234V 7 14 1a [G115X] 1 Total: 8 12.5% Exon 21 4041C ® G N1303K 1a [1548delG] 1 1a [3120 + 1G ® A] 1 Total: 2 1.5% Undetected 11 22 1a [425del42] 1 1a [711 + 1G ® A] 1 2a [1548delG] 2 2a [DF508] 2 1a [F533L] 1 1a [1249 + 1G ® A] 1 1a [3120 + 1G ® A] 1 Total: 20 25% a Indicates a compound heterozygous family. Login to comment
117 aa amino acids CFTR position Mutation Consequence Exon 4 425del42 In-frame 42 bp deletion [426-467] that predicts the removal of 14 aa [99-112] from the CFTR protein and a Gln ® His substitution at aa residue 98 [deletion point] 475G ® T [G115X] G ® T transversion at nucleotide 475 that results in Glu ® Stop codon at aa 115 548A ® T[H139L] A ® T transition at nucleotide 548 that results in a His ® Leu substitution at aa 139 Exon 5 711 + 1G ® A G ® A transition at nucleotide 711 + 1 causing a splice site defect Exon 10 1548delG Deletion of a ``G'' at nucleotide1548 which predicts a frameshift mutation that alters the aa sequence starting at residue 473 and results in translation termination at residue 526 Exon 11 1729T ® C [F533L] T ® C transition at nucleotide 1729 that results in a Phe ® Leu at aa 533 1811 + 2T ® C T ® C transversion at nucleotide 1811 + 2 causing a splice site defect Exon 19 3361A ® T [L1177X] A ® T transition at nucleotide 3361 that results in a Lys ® Stop codon at aa 1177 Fig. 1 MDE heteroduplex analysis and sequencing of amplicons containing novel CFTR mutations identi®ed in Arabs. 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

65 (2) Disease causing Screening 19 11 (10) c.1532CNG p.Ser511Cys Benign T 0.06 Path. (2) Disease causing Screening 20 24 (21) c.3932GNA p.Ser1311Asn Benign T 0.34 Path. (3) Disease causing Screening 21 17 (15) c.2778GNT p.Leu926Phe Benign T 0.24 Path. (5) Disease causing Screening 22 22 (21) c.3674CNT p.Ala1225Val Benign T0.21 Path. (1) Disease causing Screening 23 12 (11) c.1597TNC p.Phe533Leu Benign T0.94 Neut. Login to comment
73 Disruption of ESE motifs/creation of ESS motifs Acc increased (0.44/0.50) Acc gained 0.51 p.V1318G c.3953TNG No change New donor site (48.15/74.98) (+55.73%) if used causes reduction of exon size (-11nt) Donor increased (0.31/0.99) p.K1165T c.3494ANC No change Minor changes No change p.S977C c.2930CNG No change Minor changes No change p.I521F c.1561ANT No change Minor changes No change p.V1212F c.3634GNT No change Disruption of ESE motifs Donor gained 0.36 p.F319V c.955TNG No change Minor changes Acc increased (0.42/0.61) p.G817V c.2450GNT No change Minor changes No change p.C491S c.1472GNC No change Disruption of ESE motifs Acceptor sites created p.I336L c.1006ANC No change Disruption of ESE motifs No change p.F305V c.913TNG Increased score for SRp55 Disruption of ESS motifs Donor gained (0.99) p.S511C c.1532CNG Decreased score for SC35 Disruption of ESS motifs No change p.S1311N c.3932GNA Changes on ss scores Disruption of ESS motifs Donor increased (0.50/0.63) p.L926F c.2778GNT No change Creation of ESS motifs Changes on ss scores p.A1225V c.3674CNT No change Disruption of ESE motif/creation of ESS motif Donor increased (0.72/0.99) p.F533L c.1597TNC No change Creation of ESE motifs/disruption of ESS motifs No change p.Q1209H c.3627ANC No change Minor changes No change c.2490+3ANG No change Minor changes No change c.2909-36TNC Decrease of donor ss Disruption of ESS motifs Acc increased (0.33/0.48)/donor increased (0.74/0.94) c.2909-10TNC Change for SRp55 best hit (3.97/5.16) Disruption of ESS motifs No change c.4137-21GNT No change Disruption of ESE and creation of ESS motifs Acc increased (0.86/0.96) c.1116+4ANT No change WT donor site disrupted Marginal changes on donor ss c.2988+30TNC No change Disruption of ESE motif/creation of ESS motif No change c.1680-27GNA No change Disruption of ESS motifs No change c.2620-24CNG No change Creation of ESE motifs Donor gained 0.96 c.2620-18delT No change New donor ss/changes on ESE and ESS motifs Acc increased (0.41/0.55) c.2658-8CNG Decreased score for acc site Minor changes Marginal changes on ss p.L1227L c.3681ANG No change Changes on ESE and ESS motifs No change p.R1158R c.3472CNA No change Creation of ESE motifs/creation of ESS motifs Marginal changes on ss p.D1275D c.3825TNC No change No change Donor increased (0.56/0.87) p.L346L c.1036CNT No change No change No change Abbreviations: ESE: exonic splicing enhancer, HSF: human splicing finder, ESS: exonic splicing silencer, WT: wild type, Mut: mutant, ss: splicing site. Login to comment
75 Disruption of ESE motifs/creation of ESS motifs Acc increased (0.44/0.50) Acc gained 0.51 p.V1318G c.3953TNG No change New donor site (48.15/74.98) (+55.73%) if used causes reduction of exon size (-11nt) Donor increased (0.31/0.99) p.K1165T c.3494ANC No change Minor changes No change p.S977C c.2930CNG No change Minor changes No change p.I521F c.1561ANT No change Minor changes No change p.V1212F c.3634GNT No change Disruption of ESE motifs Donor gained 0.36 p.F319V c.955TNG No change Minor changes Acc increased (0.42/0.61) p.G817V c.2450GNT No change Minor changes No change p.C491S c.1472GNC No change Disruption of ESE motifs Acceptor sites created p.I336L c.1006ANC No change Disruption of ESE motifs No change p.F305V c.913TNG Increased score for SRp55 Disruption of ESS motifs Donor gained (0.99) p.S511C c.1532CNG Decreased score for SC35 Disruption of ESS motifs No change p.S1311N c.3932GNA Changes on ss scores Disruption of ESS motifs Donor increased (0.50/0.63) p.L926F c.2778GNT No change Creation of ESS motifs Changes on ss scores p.A1225V c.3674CNT No change Disruption of ESE motif/creation of ESS motif Donor increased (0.72/0.99) p.F533L c.1597TNC No change Creation of ESE motifs/disruption of ESS motifs No change p.Q1209H c.3627ANC No change Minor changes No change c.2490+3ANG No change Minor changes No change c.2909-36TNC Decrease of donor ss Disruption of ESS motifs Acc increased (0.33/0.48)/donor increased (0.74/0.94) c.2909-10TNC Change for SRp55 best hit (3.97/5.16) Disruption of ESS motifs No change c.4137-21GNT No change Disruption of ESE and creation of ESS motifs Acc increased (0.86/0.96) c.1116+4ANT No change WT donor site disrupted Marginal changes on donor ss c.2988+30TNC No change Disruption of ESE motif/creation of ESS motif No change c.1680-27GNA No change Disruption of ESS motifs No change c.2620-24CNG No change Creation of ESE motifs Donor gained 0.96 c.2620-18delT No change New donor ss/changes on ESE and ESS motifs Acc increased (0.41/0.55) c.2658-8CNG Decreased score for acc site Minor changes Marginal changes on ss p.L1227L c.3681ANG No change Changes on ESE and ESS motifs No change p.R1158R c.3472CNA No change Creation of ESE motifs/creation of ESS motifs Marginal changes on ss p.D1275D c.3825TNC No change No change Donor increased (0.56/0.87) p.L346L c.1036CNT No change No change No change Abbreviations: ESE: exonic splicing enhancer, HSF: human splicing finder, ESS: exonic splicing silencer, WT: wild type, Mut: mutant, ss: splicing site. Login to comment