ABCMdb

PMID: 17539902

Chang MC, Chang YT, Wei SC, Tien YW, Liang PC, Jan IS, Su YN, Wong JM
Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis.
Clin Genet. 2007 Jun;71(6):530-9., [PubMed]

Sentences

No. Mutations Sentence Comment

97 ABCC7 p.Glu217Gly ABCC7 p.Ile556Val ABCC7 p.Ile125Thr ABCC7 p.Asn287Tyr ABCC7 p.Ser895Asn ABCC7 p.Gln1352His These mutations include I556V, G to A 3849145, N287Y, I125T, E217G, S895N, G1O69R, and Q1352H that have been found in patients with CP or CBAVD (http://www.genet. Login to comment 109 ABCC7 p.Glu217Gly ABCC7 p.Ile556Val ABCC7 p.Ile125Thr ABCC7 p.Asn287Tyr ABCC7 p.Ser895Asn ABCC7 p.Gln1352His (%) in ICP Controls (%) I556V Exon 11 A to G 1798 Amino acid substitution 7 (8.9) 2 (1) IVS8-5T Intron 8 deletaion of 2T between 1342-12 and 1342-6 Aberrant splicing 6 (7.7) 14 (7) G to A 3849145 Intron 19 G to A at 3849145 mRNA splicing defect 3 (3.8) 2 (1) N287Y Exon 6b A to T 991 Amino acid substitution 2 (2.6) 00 (0) I125T Exon 4 T to C 506 Amino acid substitution 1 (1.3) 00 (0) E217G Exon 6a A to G 782 Amino acid substitution 1 (1.3) 00 (0) S895N Exon 15 G to A 2816 Missense mutation 1 (1.3) 00 (0) G1O69R Exon 17b G to A 3337 Amino acid substitution 1 (1.3) 00 (0) Q1352H Exon 22 G to C at 4188 Amino acid substitution 0 (0.0) 1 (0.5) ICP, idiopathic chronic pancreatitis. Login to comment 157 ABCC7 p.Glu217Gly ABCC7 p.Ile556Val ABCC7 p.Ile125Thr ABCC7 p.Asn287Tyr ABCC7 p.Ser895Asn ABCC7 p.Gln1352His All our mutations are belonging to Ômild` mutations compatible with previous studies (6), including I556V, G to A 3849145, I125T, E217G, N287Y, S895N, G1O69R, and Q1352H. Login to comment 158 ABCC7 p.Ile556Val Among them, we found a significantly higher accumulation of the I556V allele in our patients with ICP. Login to comment 159 ABCC7 p.Ile556Val ABCC7 p.Ile556Val I556V that was originally identified in patients with moderate pulmonary disease and sufficient pancreatic function (33) was found in seven patients; the frequency of I556V in chronic pancreatitis (7/78, 8.9%) was significantly (p , 0.0001) higher than that of controls (2/200, 1%). Login to comment 162 ABCC7 p.Glu217Gly E217G was previously identified in a Polish CF patient with pancreatic sufficiency (data from CFGAC). Login to comment 163 ABCC7 p.Glu217Gly The E217G mutation partially decreased membrane Table 4. Login to comment 170 ABCC7 p.Glu217Gly ABCC7 p.Gln1352His Q1352H and E217G and M470V are considered to be strongly associated with chronic pancreatitis in Korean (9). Login to comment 171 ABCC7 p.Ile556Val ABCC7 p.Ile125Thr ABCC7 p.Gln1352His I556V, I125T and Q1352H are reported to be associated chronic pulmonary disease from Singapore (35). Login to comment 172 ABCC7 p.Gln1352His ABCC7 p.Gln1352His In our study, only one control subject with Q1352H, which implied that the Q1352H might not associated with ICP in Chinese. Login to comment 173 ABCC7 p.Ser895Asn S895N was found to be associated with CBAVD in Taiwanese (36). Login to comment