ABCC7 p.Ser531Pro
| Predicted by SNAP2: | A: N (93%), C: N (66%), D: N (82%), E: N (87%), F: D (59%), G: N (82%), H: N (78%), I: N (72%), K: N (82%), L: N (72%), M: N (78%), N: N (87%), P: N (66%), Q: N (87%), R: N (78%), T: N (97%), V: N (82%), W: D (66%), Y: D (59%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: D, G: N, H: N, I: D, K: N, L: D, M: N, N: N, P: N, Q: N, R: N, T: N, V: N, W: D, Y: D, |
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[hide] Genetic aspects of pancreatitis. Annu Rev Med. 2010;61:413-24. Whitcomb DC
Genetic aspects of pancreatitis.
Annu Rev Med. 2010;61:413-24., [PMID:20059346]
Abstract [show]
Acute pancreatitis and chronic pancreatitis are complex inflammatory disorders of the pancreas with unpredictable severity, complications, and clinical courses. Growing evidence for genetic risk and modifying factors, plus strong evidence that only a minority of patients with these disorders are heavy alcohol drinkers, has revolutionized our concept of these diseases. Once considered a self-inflicted injury, pancreatitis is now recognized as a complex inflammatory condition like inflammatory bowel disease. Genetic linkage and candidate gene studies have identified six pancreas-targeting factors that are associated with changes in susceptibility to acute and/or chronic pancreatitis, including cationic trypsinogen (PRSS1), anionic trypsinogen (PRSS2), serine protease inhibitor Kazal 1 (SPINK1), cystic fibrosis transmembrane conductance regulator (CFTR), chymotrypsinogen C (CTRC) and calcium-sensing receptor (CASR). Patients with mutations in these genes are at increased risk of pancreatitis caused by a variety of stresses including hyperlipidemia and hypercalcemia. Multiple studies are reporting new polymorphisms, as well as complex gene x gene and gene x environmental interactions.
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No. Sentence Comment
154 Other recent case reports and small studies have associated pancreatitis with the following CFTR mutations: D1152H/D1152H (54), W1282X/5T, D1152H/5T, W1282X/- (55), and in Hispanics, S531P/S531P (56).
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ABCC7 p.Ser531Pro 20059346:154:183
status: NEWX
ABCC7 p.Ser531Pro 20059346:154:189
status: NEW313 The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P.
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ABCC7 p.Ser531Pro 20059346:313:84
status: NEWX
ABCC7 p.Ser531Pro 20059346:313:90
status: NEW155 Other recent case reports and small studies have associated pancreatitis with the following CFTR mutations: D1152H/D1152H (54), W1282X/5T, D1152H/5T, W1282X/- (55), and in Hispanics, S531P/S531P (56).
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ABCC7 p.Ser531Pro 20059346:155:183
status: NEWX
ABCC7 p.Ser531Pro 20059346:155:189
status: NEW314 The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P.
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ABCC7 p.Ser531Pro 20059346:314:84
status: NEWX
ABCC7 p.Ser531Pro 20059346:314:90
status: NEW[hide] The clinical course of a Mexican female with cysti... J Cyst Fibros. 2008 Sep;7(5):454-6. Epub 2008 May 6. Laguna TA, Sagel SD, Sontag MK, Accurso FJ
The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P.
J Cyst Fibros. 2008 Sep;7(5):454-6. Epub 2008 May 6., [PMID:18463004]
Abstract [show]
The case of a 16 year-old Mexican female with cystic fibrosis and the novel genotype S531P/S531P is presented. Her clinical course has consisted of recurrent pancreatitis and rapidly progressive lung disease complicated by Mycobacterium kansasii and Penicillium infection. This report illustrates the need for better characterization of CFTR mutations in a Hispanic population to aid in clinical care.
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No. Sentence Comment
12 We present a case of a Mexican girl with clinical features of CF and the novel genotype S531P/S531P.
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ABCC7 p.Ser531Pro 18463004:12:88
status: NEWX
ABCC7 p.Ser531Pro 18463004:12:94
status: NEW25 CFTR gene analysis (Ambry Genetics®) revealed the homozygous presence of a previously undescribed mutation, S531P on exon 11, on a background of the poly T genotype 7T/ 7T. Gross gene deletion(s)/duplication(s) testing was negative.
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ABCC7 p.Ser531Pro 18463004:25:112
status: NEW58 S531P mutation To determine the frequency of this mutation in a Hispanic population from the same community, we examined 42 Hispanic patients (84 alleles) from our CF clinic who underwent full CFTR gene sequencing.
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ABCC7 p.Ser531Pro 18463004:58:0
status: NEW59 None of these carried the S531P mutation.
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ABCC7 p.Ser531Pro 18463004:59:0
status: NEWX
ABCC7 p.Ser531Pro 18463004:59:26
status: NEW66 We present a patient with the novel genotype S531P/S531P.
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ABCC7 p.Ser531Pro 18463004:66:45
status: NEWX
ABCC7 p.Ser531Pro 18463004:66:51
status: NEW84 Conclusion We found the homozygous presence of a previously undescribed mutation, S531P, in this Mexican patient with severe clinical manifestations of CF.
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ABCC7 p.Ser531Pro 18463004:84:82
status: NEW85 Based on her clinical course, we believe S531P is a disease-causing mutation and should be examined in other Hispanics with CF and no previously detected CFTR mutations.
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ABCC7 p.Ser531Pro 18463004:85:41
status: NEW60 None of these carried the S531P mutation.
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ABCC7 p.Ser531Pro 18463004:60:26
status: NEW67 We present a patient with the novel genotype S531P/S531P.
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ABCC7 p.Ser531Pro 18463004:67:45
status: NEWX
ABCC7 p.Ser531Pro 18463004:67:51
status: NEW