ABCMdb

ABCC7 p.Glu264Val

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Publications

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

No. Sentence Comment

246 There are two frequent genetic defects in the gene that lead to an ␣1-antitrypsin deficiency: a glutamine-to-valine substitution at codon 264 in exon 5 (E264V) (PiS) and a glutamine to lysine substitution at codon 342 in exon 7 (E342K) (PiZ) (91). Login to comment

PMID: 11916201 [PubMed] Teich N et al: "Relevance of variants in serum antiproteinases for the course of chronic pancreatitis."

No. Sentence Comment

47 The E264V mutation in exon 3, resulting in the PiS mutation, was investigated using a mutation speci c PCR approach. Login to comment
80 Distribution of AAT variants in patients with chronic pancreatitis of different genetic background and controls Chronic pancreatitis Controls All PRSS1 SPINK1 IP 64 124 21 54 49 Age Median 29 19 35 25 12 Range 18-53 2-78 2-78 8-64 4-23 AAT variant R101H 30% 36% 38% 30% 41% ^19, *0 ^43, *1 ^8, *0 ^15, *1 ^20, *0 V213A 44% 43% 23% 43% 51% ^24, *4 ^40, *13 ^4, *1 ^17, *6 ^19, *6 E264V 3% 4% 10% 4% 2% ^2, *0 ^5, *0 ^2, *0 ^2, *0 ^1, *0 E342K 5% 2% 0% 0% 4% ^2, *1 ^2, *0 ^0, *0 ^0, *0 ^2, *0 E376D 39% 43% 33% 39% 51% ^24, *1 ^43, *10 ^5, *2 ^15, *6 ^23, *2 No 23% 19% 29% 20% 14% ^ Heterozygous, * homozygous. Login to comment

PMID: 12651880 [PubMed] Witt H et al: "Chronic pancreatitis and cystic fibrosis."

No. Sentence Comment

338 Two frequent genetic defects lead to an α1 antitrypsin deficiency: a glutamine to valine substitution at codon 264 (E264V) (PiS) and a glutamine to lysine substitution at codon 342 (E342K) (PiZ).53 An association between α1 antitrypsin deficiency and CP has been suggested by several case reports and two systematic studies,54 55 but conflicting results were obtained by other authors.56-58 All these studies, however, were performed by either α1 antitrypsin phenotyping or by measurement of serum concentrations and focused predominantly on alcohol induced pancreatitis. Login to comment

PMID: 16954950 [PubMed] Sobczynska-Tomaszewska A et al: "Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis."

No. Sentence Comment

3 The subjects were screened for PRSS1 mutations: R122H, R122C, A16V, N29I; SPINK1 N34S variant; panel of 14 CFTR defects: INNOLiPA CFTR12, CFTRdele2,3 and IVS8-T variant or panel of 3 CFTR defectsVF508del, CFTRdele2,3 and IVS8-T; AAT mutations: E264V, E342K. Login to comment
63 Genotyping for E264V (PiS) and E342K (PiZ) variants of AAT was done in accordance with Henry et al. (15). Login to comment
74 Molecular defects were found in 12 control samples: 5 cases of IVS8-5T/j (CFTR), 2 cases of N34S/j (SPINK1) and 5 cases of the E264V: 1 x E264V/E264V, 4 x E264V/j (AAT). Login to comment
90 In contrast, the overall frequency of mutations E264V and E342K in the AAT was lower than in the control group (Table 3). Login to comment
143 In our study, the frequency of the PIS (E264V) and PIZ (E342K) alleles was lower than for control group (Table 3). Login to comment

PMID: 18812833 [PubMed] Collaco JM et al: "Update on gene modifiers in cystic fibrosis."

No. Sentence Comment

80 Three commonly studied mutations include the S mutation in exon 3 (Glu264Val or c2313T>A) and the Z mutation in exon 5 (Glu342Lys or c4627G>A), which result in reduced plasma levels of a1-antitrypsin, and þ1237G>A in the 30 -untranslated region, which may result in a decrease in acute phase levels [60]. Login to comment

PMID: 19467940 [PubMed] Tomaiuolo R et al: "An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study."

No. Sentence Comment

64 Gene variants CF patients genotypes CF patients alleles With liver disease Without liver disease Fisher p-value With liver disease Withoutliver disease Fisher p-value W.T. het homo W.T. het homo Allele 1 Allele 2 Allele 1 Allele 2 HFE p.H63D 48 14 0 30 14 2 0.14 110 14 74 18 0.12 p.S65C 61 1 0 44 2 0 0.57 123 1 90 2 0.58 p.C282Y 62 0 0 44 2 0 0.18 124 0 90 2 0.18 SPE p.R101H 41 19 0 24 22 0 0.11 101 19 70 22 0.16 p.V213A 45 14 1 28 16 2 0.26 104 16 72 20 0.14 p.D256D 59 1 0 46 0 0 1.00 119 1 92 0 1.00 p.E264V 60 0 0 44 2 0 0.18 120 0 90 2 0.19 p.E376D 40 17 3 30 15 1 0.77 97 23 75 17 1.00 ABCB4 c.287-61C>T 56 0 0 40 6 0 0.52 112 0 86 6 0.54 c.351A>T 31 1 0 45 1 0 1.00 63 1 91 1 1.00 c.504T>C 17 38 6 17 17 12 0.017 72 50 51 41 0.68 c.523A>G 59 2 0 46 0 0 0.50 120 2 92 0 0.51 c.711A>T 47 13 1 27 18 1 0.08 107 15 72 20 0.09 c.834-66G>T 48 13 0 27 18 1 0.04 109 13 72 20 0.03 c.1005+7A>C 60 1 0 46 0 0 1.00 121 1 92 0 1.00 c.1005+41T>G 60 1 0 46 0 0 1.00 121 1 92 0 1.00 c.1357-40G>A 53 7 1 38 8 0 0.57 113 9 84 8 0.80 c.1529A>G 61 0 0 45 1 0 0.43 122 0 91 1 0.43 c.1732-39A>G 54 0 0 36 1 0 0.41 108 0 73 1 0.41 c.1893+34G>C 53 1 0 37 0 0 1.00 107 1 74 0 1.00 c.1954A>G 48 13 0 41 5 0 0.20 109 13 87 5 0.22 c.2064+55A>G 48 13 0 41 5 0 0.20 109 13 87 5 0.22 c.2211+16T>C 53 7 1 39 7 0 0.87 113 9 85 7 1.00 c.2478+40A>G 49 11 0 40 5 0 0.41 109 11 85 5 0.43 c.2479-67delG 49 12 0 38 5 0 0.42 110 12 81 5 0.44 c.2555A>G 61 1 0 45 1 0 0.43 123 1 91 1 0.43 c.3508-88T>C 61 1 0 45 1 0 0.43 123 1 91 1 0.43 c.3508-16C>T 52 7 1 37 9 0 0.34 111 9 83 9 0.62 c.3655-72T>C 49 12 0 40 5 0 0.29 110 12 85 5 0.31 wt: wild type; het: heterozygotes; homo: homozygotes; significantly different results are reported in bold. Login to comment
98 Similarly, we did not find differences in the frequency of the p.E264V mutation of SPE gene between CF patients with and without liver disease; furthermore, none of the subjects of our study had the other SPE mutation (i.e., p.E342K) that together to p.E264V causes the A1AT deficient phenotype [37]. Login to comment