ABCMdb

ABCC7 p.Val603Phe

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Publications

PMID: 10915740 [PubMed] Kinnman N et al: "Expression of cystic fibrosis transmembrane conductance regulator in liver tissue from patients with cystic fibrosis."

No. Sentence Comment

49 Clinical and Laboratory Data in Patients With CF at the Time of Liver Biopsy Patient No Genotype Gender/ Age (yr) Body Weight (kg) Height (cm) FEV1.0 (% pred) Serum ALT (␮kat/L) GGT (␮kat/L) Blood Prothrombin time (%) 1 ⌬F508/⌬F508 F/10 38 137 85 0.55 0.20 89 2 ⌬F508/⌬F508 M/10 33 146 99 0.44 0.22 55 3 ⌬F508/⌬F508 M/13 48 168 91 0.54 0.41 64 4 ⌬F508/⌬F508 M/18 69 180 82 0.78 0.59 37 5 ⌬F508/1112delT M/4 16 101 ND 0.85 0.73 38 6 ⌬F508/E640 F/8 29 138 84 0.52 0.39 92 7 ⌬F508/V603F F/8 22 122 100 0.56 0.17 115 8 ⌬F508/394delTT F/10 23 127 90 0.44 0.20 112 9 ⌬F508/3659delC M/38 60 165 103 0.49 1.10 86 10 1112delT/1112delT M/5 22 108 ND 0.63 0.11 122 11 R764X/R764X M/22 68 188 72 0.56 0.26 67 NOTE. Reference range: ALT, F Ͻ .60, M Ͻ .80; GGT, F Ͻ .8, M Ͻ 1.3; Blood-prothrombin time, 70-130. Login to comment
52 Ultrasonographic and Light Microscopic Findings of the Liver in Patients With CF Patient No Genotype Ultrasonography Light Microscopy Echogenecity Microgallbladder Fatty Infiltration Inflammatory Cells Bile-Duct Proliferation Fibrosis 1 ⌬F508/⌬F508 - No ϩ - ϩ ϩϩ 2 ⌬F508/⌬F508 ϩϩ No ϩ - - - 3 ⌬F508/⌬F508 ϩ No ϩ - - ϩ 4 ⌬F508/⌬F508 ϩϩ ND ϩϩ ϩϩ ϩ ϩ 5 ⌬F508/1112delT - No - ϩϩ ϩϩ ϩϩϩ 6 ⌬F508/E640 ϩ No - ϩ - - 7 ⌬F508/V603F - No ϩϩ - ϩ ϩ 8 ⌬F508/394delTT - No - - - ϩ 9 ⌬F508/3659delC ϩϩ No ϩϩ - - ϩ 10 1112delT/1112delT - Yes - - - ϩ 11 R764X/R764X ϩϩ Yes ϩϩ - - ϩ NOTE. Login to comment
92 Results of Immunohistochemical Staining in Liver Sections from CF Patients Patient No Genotype CFTR CK 19 ICAM-1 ␣-SMA CD 3 CD68 1 ⌬F508/⌬F508 ϩϩ ϩϩ ϩ ϩϩ ϩ N 2 ⌬F508/⌬F508 ϩϩ ϩ - - N N 3 ⌬F508/⌬F508 ϩϩ ϩ - - N N 4 ⌬F508/⌬F508 ϩϩ ϩϩ - ϩ ϩϩ ϩ 5 ⌬F508/1112delT ϩ ϩϩϩ ϩ ϩϩ ϩϩ ϩ 6 ⌬F508/E640 ϩ ϩ - - ϩ N 7 ⌬F508/V603F ϩ ϩϩ ϩ ϩ N N 8 ⌬F508/394delTT ϩ ϩ - - N N 9 ⌬F508/3659delC ϩ ϩ - ϩϩ N N 10 1112delT/1112delT - ϩ - ϩϩ N N 11 R764X/R764X - ϩ - ϩϩ N N NOTE. CFTR: - negative staining, ϩ weak positive staining of bile-duct cells, ϩϩ positive staining of bile-duct cells. Login to comment

PMID: 11788090 [PubMed] Strandvik B et al: "Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations."

No. Sentence Comment

27 MUTATIONS IDENTIFIED IN 258 CHROMOSOMES IN THE CF POPULATION ATTENDING THE SOUTH-WESTERN SWEDISH CF CENTRE Location in the Frequency of Mutation gene, exon Number of mutations mutation (%) Homozygotes Heterozygotes DF508 10 161 62.4 56 49 394delTT 3 13 5.0 3 7 R117C 4 7 2.7 7 3659delC 19 5 1.9 5 E60X 3 4 1.6 4 1112delT 7 4 1.6 1 2 R764X 13 4 1.6 1 2 621 1 1G ® T 4 3 1.2 3 G551D 11 2 0.8 2 I506L 10 2 0.8 2 N1088D (R75Q) 17b 2 0.8 2 Q1238X 19 2 0.8 2 R117H (IVS8-5T) 4 2 0.8 2 V603F (IVS8-5T) 13 2 0.8 2 1716G ® A 10 2 0.8 2 R75Q 3 2 0.8 2 R533X 11 1 0.4 1 2329A ® G Promoter 1 0.4 1 297-3 C ® A 2 1 0.4 1 Y161D 4 1 0.4 1 994del9 Exon/intron 6b 1 0.4 1 1154insTC 7 1 0.4 1 W361R 7 1 0.4 1 T338I 7 1 0.4 1 1249-5A ® G Intron 7 1 0.4 1 1717-2A ® G Intron 10 1 0.4 1 R560T 11 1 0.4 1 E1401X 23 1 0.4 1 3126del4 17a 1 0.4 1 S945L 15 1 0.4 1 R668C 13 1 0.4 1 2622 1 2del6 Intron 13 1 0.4 1 R1162Q Exon 19 1 0.4 1 3849 1 10kbC ® T Intron 19 1 0.4 1 R74W Exon 3 1 0.4 1 2363C ® T Promoter 1 0.4 1 IVS8-5Ta Intron 8 1 0.4 1 Unidentified 20 7.8 Total 258 100 61 116 The new mutations are displayed in bold. Login to comment
75 CLINICAL DATA FOR THE CF PATIENTS CARRYING NEW MUTATIONS Age PI Lung Sweat (years) at or disease Cl Mutations diagnosis PSb (severity) (mmol/liter) Additional symptoms Frameshift 1112delT/1112delT 4 PI 111 110 1112delT/DF508 0.3 PI 111 112 1112delT/DF508 0.2a PI 111 110 3126del4/E60X 2 PI 11 130 994del9/DF508 0.08 PI 2 120 Meconium ileus RNA splice 297-3C ® A/DF508 0.3 PI 1 120 2622 1 2del6/DF508 0.25 PI 111 100 Nonsense E1401X/unknown 6 PS 2 52 Poor growth, fat malabsorption, abnormal electrophysiological response in the intestinal mucosal biopsy Missense V603F, IVS8-5T/DF508 2 PI 1 101 N1088D, R75Q/DF508 4a PS 2 78 N1088D, R75Q/DF508 2 PS 2 75 Y161D/DF508 0.4 PI 1 83 Malabsorption I506L/DF508 42.5 PS 111 103 I506L/3659delC 30 PS 111 80 R1162Q/unknown nvc PS 1 6 Frequent pneumonias V603F, IVS8-5T/unknown nvc PS (1) 24 Sinusitis, severe recurrent hypoglycemia, nasal polyps, abdominal pain Promoter? Login to comment
99 V603F. Login to comment
100 This missense mutation in exon 13 (R-domain) was caused by a transversion of G to T at the position 1939 of the CFTR gene and, in consequence,the change of valine to phenylalanine at amino acid position 603. Login to comment
101 This allele was found in a female patient with the DF508 as the second allele, and the RNA splice site IVS8-5T variantco-segregatingwith the V603F mutation. Login to comment
171 Two of them (V603F and Y161D) are associated with PI, moderate-to-severe lung disease, and elevated sweat chloride levels. Login to comment

PMID: 14696845 [PubMed] Gronowitz E et al: "Association between serum oncofetal antigens CA 19-9 and CA 125 and clinical status in patients with cystic fibrosis."

No. Sentence Comment

45 The remaining 23 patients had at least one mild (I506L, R117C, S945L, T338I, W301R, 3849 10KBC → T, 1249-5 → G, R117H, R75Q), moderate (G551D, R560T, V603F) or unknown mutation. Login to comment

PMID: 17400678 [PubMed] Keen C et al: "Airway nitric oxide in patients with cystic fibrosis is associated with pancreatic function, Pseudomonas infection, and polyunsaturated fatty acids."

No. Sentence Comment

30 Patients in group 3 were heterozygous for mutations dF508 and V603F, R560T, or 621 ϩ 1G-T; group 4 patients were heterozygous for mutations dF508, 3659del C, or 394delTT and a mutation linked to a "mild" phenotype (eg, N1088D, R117C, R117H, R75Q, R658X, S945L, 1154insTC, or T338I). Login to comment