ABCMdb

ABCC7 p.Asn187Lys

CF databases:	c.561C>A , p.Asn187Lys (CFTR1) ? , The mutation was detected by SSCP analysis and direct sequencing. The mutation was found in a patient affected with chronic pancreatitis, no other mutation has been identified in the patient.
Predicted by SNAP2:	A: D (59%), C: D (66%), D: N (66%), E: D (66%), F: D (85%), G: N (57%), H: N (82%), I: D (85%), K: D (66%), L: D (71%), M: D (80%), P: D (85%), Q: N (53%), R: D (85%), S: N (66%), T: N (57%), V: D (80%), W: D (91%), Y: D (80%),
Predicted by PROVEAN:	A: D, C: D, D: N, E: N, F: D, G: D, H: N, I: D, K: D, L: D, M: D, P: D, Q: N, R: D, S: N, T: D, V: D, W: D, Y: D,

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[hide] Germline mutations in CFTR and PSTI genes in chron... Dig Dis Sci. 2002 Nov;47(11):2416-21. Gaia E, Salacone P, Gallo M, Promis GG, Brusco A, Bancone C, Carlo A
Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients.
Dig Dis Sci. 2002 Nov;47(11):2416-21., [PMID:12452372]

Abstract [show]
Mutations in the cationic trypsinogen, cystic fibrosis transmembrane conductance regulator (CFTR) and pancreatic secretory trypsinogen inhibitor (PSTI) genes have recently been associated with chronic pancreatitis. This paper investigates the frequency of CFTR and PSTI gene mutation in patients with idiopathic and alcoholic chronic pancreatitis, the clinical course of patients with these two kinds of disease, and examines the clinical differences between carriers and noncarriers of mutation. In idiopathic pancreatitis a significant increase was found in mutation frequency both in the CFTR gene (13%) and N34S mutation in the PSTI gene (3.9%), as well as an increase in familial disposition to pancreatic disorders. In alcohol-induced pancreatitis an increase in calcification, exocrine insufficiency, and diabetes mellitus was observed. In conclusions, mutations in the genes investigated are involved in causing idiopathic pancreatitis. Such mutations have no connection either with the age at onset or the clinical course of the disease.

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No. Sentence Comment
56 All mutations (W1282X, N187K, R352Q, ⌬F508, R75Q, R31C, 621ϩ2T-ϾG, I197V, K68N, R1162X) were found in heterozygotes, indicating that these patients are carriers of a single mutation. Login to comment
78 PATIENTS CARRYING THE CFTR MUTATION* Pt Sex Age (yr) Age at onset (yr) Alcohol (g/day)† Familial CFTR mutations Exocrine insufficiency Diabetes mellitus(Յ10) (10-40) (40-80) T.B. M 59 23 (Յ10) No W1282X Yes No B.G. M 40 29 (Յ10) Yes N187K No No E.P. M 40 34 (Յ10) No R352Q No Yes D.N. M 53 47 (10-40) No R75Q Yes No R.L. F 57 44 (Յ10) No R31C No No T.F. M 56 *‡ (Յ10) No 621 ϩ 2T 3 G Yes No F.G. M 54 46 (10-40) No I197V Yes No V.M. M 65 *† (10-40) No K68N Yes No B.L. F 57 56 (10-40) Yes ⌬F508 No Yes T.G. M 25 24 (Յ10) No R1162X No No *This table shows the characteristics of chronic pancreatitis patients, carriers of CFTR mutations. Login to comment
89 The remaining two (N187K and I197V) are missense mutations that have never been observed before. Login to comment

[hide] On the role of CFTR, PSSR1 and PST1/SPINK1 in idio... Eur J Hum Genet. 2003 Feb;11(2):107; author reply 108. Perri F, Piepoli A, Andriulli A
On the role of CFTR, PSSR1 and PST1/SPINK1 in idiopathic chronic pancreatitis.
Eur J Hum Genet. 2003 Feb;11(2):107; author reply 108., [PMID:12634855]

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No. Sentence Comment
24 Table 1 Sequence variation identified in the PRSS1, PSTI, and CFTR genes in 37 Italian patients with ICP CFTR Patient PRSS1 PSTI Mutant PolyT 1 - a - W1282X/N 7T/9T 2 - - N187K/N 7T/7T 3 - - 711+1G/1T 7T/7T 4 - - R75Q/N 7T/9T 5 - - NDb ND 6 - - - 5T/9T 7 - - - 5T/7T 8 - - - 5T/7T 9 - - - 5T/7T 10 - - - 5T/7T 11 - P55S - 5T/7T 12 to 37 - - - 7T/7T or 7T/9T a Indicates two wild alleles. Login to comment