ABCMdb

ABCC7 p.Leu327Arg

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Publications

PMID: 10909845 [PubMed] Chen JM et al: "Molecular basis of hereditary pancreatitis."

No. Sentence Comment

81 It is worth pointing out that in 1996, the same year the identification of the cationic trypsinogen gene was associated with HP, mutations in the CFTR gene were reported to be detected in HP families.54 Of the two new mutations identified, a heterozygous L327R was found to segregate with the disease in one family. Login to comment
84 Analogous with other atypical diseases of CF, including congenital absence of the vas deferens, chronic bronchitis and sinusitis with nasal polyposis, sporadic chronic pancreatitis with abnormal CFTR alleles was referred to as a monosymptomatic form of CF.57 These observations prompted us to re-evaluate the role of the L327R missense mutation in the CFTR gene identified in a single HP family.54 There could be three explanations: first, this substitution is indeed a disease-causing mutation. Login to comment
86 Second, the L327R substitution represents a mere coincidence, provided that it does not have any phenotype-modifying effect on the disease. Login to comment

PMID: 11276378 [PubMed] Rolston RK et al: "Genetic testing in acute and chronic pancreatitis."

No. Sentence Comment

65 Chen and Ferec [29••], evaluating the role of the L327R missense mutation in the CFTR gene in a single family with hereditary pancreatitis postulated three possible mechanisms: 1) L327R causes monosymptomatic CF, the primary manifestation of which is pancreatitis; 2) The CFTR alteration is coincidental, and an unidentified disease-causing mutation probably lies in cationic trypsinogen; and 3) CFTR may act as a modifier gene in the pathogenesis of hereditary pancreatitis. Login to comment

PMID: 11840029 [PubMed] Witt H et al: "Genetics of chronic pancreatitis."

No. Sentence Comment

223 One of these mutations, L327R, segregated with the disease within the family. Login to comment

PMID: 7521710 [PubMed] Ravnik-Glavac M et al: "Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene."

No. Sentence Comment

77 Mutations L327R, R347P and R352Q were better distinguished from wild type on gel with higher acrylamide concentration. Login to comment
121 1078delT (35), L327R (Ravnik-Glavac a al., unpublished), R334W (36), D36K (31), R347L (26), R347P (14), A349V (26), R352Q (30), 1221delCT (34); Exon 8: W401X (31), 1342-1G-C (25); Exon 9: G458V (37), 1525 -1G-A (38); Exon 10: S492F (34), Q493X (39), 1609delCA (40,17), deltaI507 (39,41), deltaF5O8 (3), 1717-1G-A (39,42); Exon 11: G542X (39), S549N, G551D, R553X (43), R553Q (44), A559T (43), R560K (Fine et al., pers. comm.), R560T (39); Exon 12: Y563N (39), 1833delT (Schwartz et al., pers. comm.), P574H (39), 1898 + 1G-C (31), 1898+3A-G (Ferrari et al., pers. comm.); Exon 13: G628R(G-C) (31), Q685X (Firec et al., pers. comm.), K716X (26), L719X (Dork etal., pers. comm.), 2522insC (15), 2556insAT (45), E827X (34); Exon 14a: E831X (Ffrec et al., pers. comm.), R851X (29), 2721delll (31), C866Y (Audrezet et al., pers. comm.); Exon 14b: 2789+5G-A (Highsmith et al., pers. comm.); Exon 15: 2907denT (21), 2991del32 (Dark and TQmmler, pers. comm.), G970R (31); Exon 16: S977P, 3100insA (D6rk et al., pers. comm.); Exon 17a: I1005R (Dork and TQmmler, pers. comm.), 3272-1G-A (46); Exon 17b: H1054D (F6rec et al., pers. comm.), G1061R (Fdrec et al., pers. comm.), 332Oins5, R1066H, A1067T (34), R1066L (Fe"rec etal., pers. comm.), R1070Q (46), E1104X (Zielenski el al., pers. comm.), 3359delCT (46), L1077P (Bozon « a/., pers. comm.), H1085R (46), Y1092X (Bozon etal., pers. comm.), W1098R, M1101K (Zielenski et al., pers. comm.); Exon 18: D1152H (Highsmith et al., pers. comm.); Exon 19:R1162X (36), 3659delC (39), 3662delA (25), 3667del4 (Chillon et al., pers. comm.), 3737ddA (35), 3821ddT (15), I1234V (35), S1235R (31), Q1238X (26), 3849G-A (25), 385O-3T-G (38); Exon20:3860ins31 (Chillon etal., pers. comm.), S1255X (47), 3898insC (26), 3905insT (Malik et al., pers. comm.), D127ON (48), W1282X (49), Q1291R (Dork et al., pers. comm.), Exon 21: N1303H (35), N13O3K (50), W1316X (43); Exon 22: 11328L/4116delA (Dork and TQmmler, pers. comm.), E1371X (25); Exon 23: 4374+ 1G-T (38); Exon 24: 4382delA (Claustres et al., pers. comm.). Login to comment