ABCC7 p.Met348Val
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PMID: 15987793
[PubMed]
Weiss FU et al: "Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls."
No.
Sentence
Comment
237
In the group of ICP patients being heterozygous for a single CFTR mutation one severe (2184insA, this insertion causes a frame shift) and eight mild/uncommon mutations (26 S1235R, R31C, R75Q, R347P, G576A, M348V, and V754M) were identified.
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ABCC7 p.Met348Val 15987793:237:206
status: NEW238 M348V and A1087P present novel molecular changes in the CFTR gene with so far undetermined consequences on CFTR function.
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ABCC7 p.Met348Val 15987793:238:0
status: NEW239 A1087P affects the intracellular loop between the transmembrane domains M10 and M11 and is most probably a mild missense mutation whereas M348V is located in the sixth transmembrane domain of the protein, where the wild type sequence has been conserved during evolution.
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ABCC7 p.Met348Val 15987793:239:138
status: NEW256 The reason why numbers for compound heterozygous ICP patients in these studies are diverse (4/67 = 6% in our study) may be due to differences Table 1 CFTR and SPINK1 sequence variations identified in 30 of the 67 ICP patients PatientSex CFTR mutation T allele TG repeats PSTI mutation 1 M DF508/R117H 7/7 9/10 -/- 2 W DF508/A1087P 7/9 10/11 -/- 3 M DF508/D1152H 7/9 10/10 -/- 4 M S1235R/R668C 7/7 11/12 -/- 5 M 2184insA/- 7/7 10/12 -/- 6 M R31C/- 7/7 10/11 -/- 7 M R75Q/- 7/7 11/11 -/- 8 M R347P/- 7/7 11/12 -/- 9 M S1235R/- 7/7 11/12 -/- 10 W S1235R/- 7/7 11/12 -/- 11 M G576A/- 7/7 10/10 -/- 12 W M348V/- 7/9 10/10 -/- 13 M V754M/- 7/7 10/11 -/- 14 M -/- 5/7 11/12 -/- 15 W -/- 5/7 11/12 -/- 16 M -/- 5/7 11/12 -/- 17 W -/- 5/9 11/12 -/- 18 M -/- 5/7 11/12 -/- 19 M -/- 5/7 10/10 -/- 20 W -/- 5/7 10/10 -/- 21 W -/- 5/7 11/12 N34S/- 22 W -/- 7/7 10/11 N34S/- 23 M -/- 7/9 10/11 N34S/- 24 M -/- 7/7 11/11 N34S/- 25 M -/- 7/7 11/11 N34S/- 26 W -/- 7/7 11/11 N34S/- 27 M -/- 7/7 11/11 N34S/- 28 W -/- 7/7 10/11 N34S/- 29 W -/- 7/7 11/11 P55S/- 30 W -/- 7/7 11/11 IVS3+2TC/- Table 2 CFTR sequence variations identified in 11 of 60 healthy controls Control group Number DF508/- 3 R117H/- 2 I148T/- 1 L997F/- 1 5T/12TG 1 5T/11TG 3 in patient recruitment, the catchment populations, or the stringency with which cystic fibrosis patients were excluded.
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ABCC7 p.Met348Val 15987793:256:599
status: NEW
PMID: 19359437
[PubMed]
Weiss FU et al: "Functional characterisation of the CFTR mutations M348V and A1087P from patients with pancreatitis suggests functional interaction between CFTR monomers."
No.
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Comment
0
LETTERS Functional characterisation of the CFTR mutations M348V and A1087P from patients with pancreatitis suggests functional interaction between CFTR monomers In a recent study on the role of cystic fibrosis transmembrane conductance regulator (CFTR) mutations in idiopathic chronic pancreatitis (Gut 2005;54:1456-60) we sequenced the complete CFTR-coding region of 67 pancreatitis patients and 60 controls.
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ABCC7 p.Met348Val 19359437:0:58
status: NEW2 Two patients with previously unknown CFTR mutations (M348V and A1087P) were identified, and their unexpected clinical course after conclusion of the trial prompted the functional studies below.
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ABCC7 p.Met348Val 19359437:2:53
status: NEW3 The M348V mutation was found in a woman diagnosed with chronic pancreatitis at the age of 63.
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ABCC7 p.Met348Val 19359437:3:4
status: NEW23 How mild CFTR mutants such as M348V predispose to pancreatitis is currently being investigated in transgenic animal models.
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ABCC7 p.Met348Val 19359437:23:30
status: NEW
PMID: 25702115
[PubMed]
Gee HY et al: "Analysis of conventional and unconventional trafficking of CFTR and other membrane proteins."
No.
Sentence
Comment
2366
Functional characterisation of the CFTR mutations M348V and A1087P from patients with pancreatitis suggests functional interaction between CFTR monomers.
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ABCC7 p.Met348Val 25702115:2366:50
status: NEW