ABCC7 p.Pro798Ser
| ClinVar: |
c.2392C>T
,
p.Pro798Ser
?
, Uncertain significance
|
| CF databases: |
c.2392C>T
,
p.Pro798Ser
(CFTR1)
?
,
|
| Predicted by SNAP2: | A: N (53%), C: N (57%), D: N (53%), E: N (53%), F: D (66%), G: N (53%), H: N (53%), I: N (57%), K: N (61%), L: N (57%), M: D (59%), N: N (66%), Q: N (78%), R: N (66%), S: N (78%), T: N (66%), V: N (57%), W: D (75%), Y: D (63%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Reduced Arylsulfatase B activity in leukocytes fro... Pediatr Pulmonol. 2012 May 1. doi: 10.1002/ppul.22567. Sharma G, Burke J, Bhattacharyya S, Sharma N, Katyal S, Park RL, Tobacman J
Reduced Arylsulfatase B activity in leukocytes from cystic fibrosis patients.
Pediatr Pulmonol. 2012 May 1. doi: 10.1002/ppul.22567., [PMID:22550062]
Abstract [show]
The enzyme Arylsulfatase B (ARSB; N-acetylgalactosamine-4-sulfatase) removes 4-sulfate groups from chondroitin-4-sulfate and dermatan sulfate and is required for the degradation of these sulfated glycosaminoglycans (sGAGs). Since these GAGs accumulate in patients with Cystic Fibrosis (CF), we investigated the activity of ARSB in leukocytes of patients with CF, to consider if reduced activity of ARSB might contribute to the pathophysiology of CF. Previous cell-based experiments had demonstrated that when the deficiency of the cystic fibrosis transmembrane regulator (CFTR) was corrected in bronchial epithelial cells, the ARSB activity increased significantly. De-identified, citrated blood samples were collected from 16 children with CF and 31 control subjects, seen in the Pediatric Clinic at Rush University Medical Center. Polymorphonuclear leukocytes (PMN) and mononuclear cell (MC) populations were separated by density gradient, and blinded determinations of ARSB activity were performed using the exogenous substrate 4-methylumbilliferyl sulfate. Interleukin-6 was measured in the plasma samples by ELISA. ARSB activity was significantly less in the PMN and MC from the CF patients than controls (P < 0.0001, unpaired t-test, two-tailed). Interleukin-6 levels in plasma were significantly greater in the CF population (P < 0.001). Mean age, age range, and male:female ratio of CF patients and controls were similar, and no association of ARSB activity with age, gender, or CFTR genotype was evident. Since recombinant human ARSB is used successfully for replacement therapy in Mucopolysaccharidosis VI, it may be useful to restore ARSB activity to normal levels and increase degradation of sulfated GAGs in CF patients. Pediatr Pulmonol. (c) 2012 Wiley Periodicals, Inc.
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No. Sentence Comment
66 TABLE 2- Subject Data Gender Age (yrs) PMN ARSBa (nmol/mg protein/hr) MC ARSBb (nmol/mg protein/hr) WBC ARSBc (nmol/mg protein/hr) IL-6d (pg/ml) Other Cystic fibrosis Male 10.5 52.3 44.7 63.9 DF508/DF508 Female 6.5 48.4 63.8 DF508/DF508 Male 14.5 52.0 46.2 66.6 DF508/G551D Female 9 44.1 50.9 60.8 2307insA/3120 þ 1G > A Female 17.5 49.8 53.7 73.8 NAe Male 17.5 57.1 53.0 73.8 DF508/DF508 Female 15.5 46.0 61.3 DF508/1717-1G > A Male 6.5 52.1 68.6 DF508/DF508 Male 16.5 53.6 52.2 66.2 DF508/DF508 Female 9 60.2 53.7 66.8 S1255x(2)/11203V(2) Female 15 42.9 69.4 DF508/DF508 Male 17 50.1 58.1 64.3 R74W/D1270N/(TG)11-5T/(TG)11-7T Female 9 44.4 48.0 58.2 DF508/DF508 Male 8.5 59.7 48.7 65.2 DF508/312011G > A Female 10.5 53.8 58.3 75.1 DF508/312011G > A Male 15 45.5 48.2 50.0 F508del/P74W/D1270N/P798S/G921E Controls Female 5 67.4 66.4 4.8 Neuromuscular Female 4.5 72.7 64.8 5.1 Down Syndrome Female 17 71.7 60.2 4.3 Down Syndrome; renal Male 3.5 83.8 63.6 4.4 Neuromuscular Male 12 71.0 67.6 4.6 Trauma Male 16 68.8 59.4 5.8 Neuromuscular Male 7 82.8 59.4 - Heme/Onc Male 17 78.7 55.8 5.3 Renal Female 16.5 76.9 65.2 4.1 Renal Male 12.5 69.7 66.6 6.3 Renal Male 8 78.0 56.2 5.0 None Female 8 69.6 67.9 5.6 None Female 5 66.8 64.0 4.8 None Female 11 77.9 68.6 5.8 None Male 14 85.5 61.2 5.0 None Female 9 77.6 65.3 5.0 None Female 16 67.4 64.0 5.0 None Female 9 75.9 57.4 4.7 None Male 16 81.9 58.8 5.4 None Male 14 81.3 69.1 6.2 None Male 15.5 73.0 62.9 3.6 None Male 7.5 73.9 57.2 13.5 Asthma Male 11 62.5 69.9 18.2 Asthma Female 11 70.1 65.3 13.8 Asthma Female 8.5 81.3 56.8 11.4 Asthma Male 9 53.1 55.6 12.2 Asthma Male 3.5 60.0 47.6 17.8 Asthma Male 5.5 68.6 39.0 13.0 Asthma Male 12 84.4 45.8 24.9 Asthma Male 12 68.1 51.4 26.6 Asthma Male 16.5 56.3 47.8 26.6 Asthma a for polymorphonuclear leukocyte arylsulfatase B activity.
X
ABCC7 p.Pro798Ser 22550062:66:799
status: NEW