ABCMdb

ABCC7 p.Arg560Cys

ClinVar:	c.1680A>C , p.Arg560Ser ? , not provided c.1679G>A , p.Arg560Lys D , Pathogenic c.1678A>G , p.Arg560Gly ? , not provided c.1679G>C , p.Arg560Thr D , Pathogenic
CF databases:	c.1680A>C , p.Arg560Ser D , CF-causing ; CFTR1: This mutation was identified by DGGE and direct sequencing. c.1679G>C , p.Arg560Thr D , CF-causing c.1679G>A , p.Arg560Lys D , CF-causing ; CFTR1: The nucleotide change was identified once among 87 non-[delta]F508 chromosomes. tTHe patientis a compound heterozygote with 1717-1G->A on the other chromosome. She is 12 years old, with at this time a mild form of the disease. The mutation abolishes a HphI site in exon 11. The mutatee allele is 425 bp and the normal is 211 +214 after hphI digestion but the enzyme digestion identifies both the R560T and R560K. The R560K is a missense mutation and also probably a splice mutation because that position subsitutes AA for AG immediately up stream of the splice acceptor site, postition that has been reported to alter splicing (VIDAUD, PNAS, 86, 1041-1045). c.1678A>G , p.Arg560Gly (CFTR1) ? , This change has been detected by DGGE analysis and direct sequencing. The mutation creates a Mnl I restriction site
Predicted by SNAP2:	A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: N (66%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), S: D (59%), T: D (53%), V: D (95%), W: D (95%), Y: D (95%),
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, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Adherence of airway neutrophils and inflammatory r... Am J Physiol Lung Cell Mol Physiol. 2006 Mar;290(3):L588-96. Epub 2005 Nov 4. Tabary O, Corvol H, Boncoeur E, Chadelat K, Fitting C, Cavaillon JM, Clement A, Jacquot J
Adherence of airway neutrophils and inflammatory response are increased in CF airway epithelial cell-neutrophil interactions.
Am J Physiol Lung Cell Mol Physiol. 2006 Mar;290(3):L588-96. Epub 2005 Nov 4., [PMID:16272177]

Abstract [show]
Persistent presence of PMN in airways is the hallmark of CF. Our aim was to assess PMN adherence, percentage of apoptotic airway PMN (aPMN), and IL-6 and IL-8 production when aPMN are in contact with airway epithelial cells. Before coculture, freshly isolated CF aPMN have greater spontaneous and TNF-alpha-induced apoptosis compared with blood PMN from the same CF patients and from aPMN of non-CF patients. We then examined cocultures of PMN isolated from CF and non-CF airways with bronchial epithelial cells bearing mutated cftr compared with cftr-corrected bronchial epithelial cells. After 18-h coculture, the number of CF aPMN adhered on cftr-deficient bronchial epithelial cells was 2.3-fold higher compared with the coculture of non-CF aPMN adhered on cftr-corrected bronchial epithelial cells. The percentage of CF apoptotic aPMN (9.5 +/- 0.2%) adhered on cftr-deficient bronchial epithelial cells was similar to the percentage of non-CF apoptotic aPMN adhered on cftr-corrected bronchial epithelial cells (10.3 +/- 0.7%). IL-6 and IL-8 levels were enhanced 6.5- and 2.9-fold, respectively, in coculture of CF aPMN adhered on cftr-deficient bronchial epithelial cells compared with coculture of non-CF aPMN adhered on cftr-corrected bronchial epithelial cells. Moreover, blocking surface adhesion molecules ICAM-1, VCAM-1, and E-selectin on cftr-deficient bronchial epithelial cells with specific MAbs inhibited the adherence of CF aPMN by 64, 51, and 50%, respectively. Our data suggest that in CF patients a high number of nonapoptotic PMN adhered on airway epithelium associated with elevated IL-6 and IL-8 levels may contribute to sustained and exaggerated inflammatory response in CF airways.

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Sentences [show]
No. Sentence Comment
66 Sex Age, yr CF Genotype Clinical Score FVC, % FEV1, % Pseudomonas aeruginosa Colonization 1 M 15 ⌬F508/⌬F508 30 32 21 yes 2 M 16 ⌬F508/⌬F508 60 70 43 yes 3 M 17 ⌬F508/⌬F508 30 41 23 yes 4 F 4 ⌬F508/⌬F508 80 NA NA no 5 F 16 ⌬F508/⌬F508 50 53 41 yes 6 M 15 ⌬F508/⌬F508 30 33 20 yes 7 M 13 ⌬F508/⌬F508 50 61 37 yes 8 M 15 ⌬F508/⌬F508 70 70 50 no 9 F 21 R1066C/NI 50 60 77 yes 10 F 14 2183A/2183A 50 48 39 yes 11 M 14 G542X/2176insC 30 34 25 yes 12 M 17 ⌬F508/R560C 30 47 27 yes 13 M 17 IVS8 (5T)/IVS8 (5T) NA NA NA yes 14 F 18 3906insT/1609⌬CA 40 47 30 yes 15 F 13 G551D/S1235Rϩ5T 70 84 86 no 16 F 15 N1303K/347 del70 70 44 35 yes Clinical score, Schwachman-Kulczycki score; FVC, forced vital capacity; FEV1, forced expiratory volume in 1 s; M, male; F, female; NA, not applicable. Login to comment