ABCMdb

ABCC7 p.Gly149*

None has been submitted yet.

Publications

PMID: 17716958 [PubMed] Shastri SS et al: "Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India."

No. Sentence Comment

7 Three novel mutations, viz. c.1002-7_1002-5delTTT, p.G149X and p. L183I were also identified. Login to comment
82 SSCP/HA SSCP/HA identified at least one mutation in exons 3, 4, 7, 11 and 19 viz. p.R75Q in exon 3, p.G149X in exon 4, c.1161delC, p.R352Q and c.1002-7_1002-5delTTT in exon 7, p.S549N in exon 11 and p.R1158X in exon 19. Login to comment
85 Novel mutations identified Three mutations (c.1002-7_1002-5delTTT, p.L183I, p. G149X) unpublished so far (Table 2) were detected in one patient each. Login to comment
86 While c.1002-7 to 1002-5delTTT was detected in homozygous state, p.L183I and p.G149X were detected in heterozygous state. Login to comment
94 Severe clinical phenotype was seen in a patient with p.G149X mutation and low CF score, whereas milder CF phenotype was seen in the two patients with c.1002-7_1002- 5delTTT and p.L183I. Login to comment
116 The frequency Table 2 New mutations identified in patients with cystic fibrosis Mutation 1 Mutation 2 Mutation 3 Exon/intron Exon 4 Intron 6b Exon 5 Mutation p.G149X (c.577GNT) c.1002-7_1002-5delTTT p.L183I (c.679CNA) Resulting change Stop codon at 149 Deletion of 3 bp in intron 6b/exon7 boundary Leucine to isoleucine at 183 Genotype of the patient p.[F508del]+[G149X] c. Login to comment
121 9 p.[F508del]/[c.3849+10 kb CNT] 2 p.[F508del]+[R1158X] 1 p.[F508del]+[G149X] 1 c. Login to comment
144 p.G149X is a nonsense mutation resulting from the substitution of guanine by thymidine at the nucleotide position 577. Login to comment
148 He was compound heterozygous for p.F508del with p.G149X and had meconium ileus, lower respiratory tract infections (LRTI) and severe FTT. Login to comment