ABCMdb

ABCC7 p.Gly149*

ClinVar:	c.445G>A , p.Gly149Arg ? , not provided c.446G>T , p.Gly149Val ? , not provided
CF databases:	c.446G>T , p.Gly149Val (CFTR1) D , This mutation was detected by exon 4 DGGE and sequencing in one Portuguese CF patient with the F508del in the other gene. c.445G>A , p.Gly149Arg (CFTR1) ? , This possible mutation was identified in an infertile man (congenital bilateral absence of vas deferens).

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Publications
[hide] Characterisation of mutations and genotype-phenoty... J Cyst Fibros. 2008 Mar;7(2):110-5. Epub 2007 Aug 22. Shastri SS, Kabra M, Kabra SK, Pandey RM, Menon PS
Characterisation of mutations and genotype-phenotype correlation in cystic fibrosis: experience from India.
J Cyst Fibros. 2008 Mar;7(2):110-5. Epub 2007 Aug 22., [PMID:17716958]

Abstract [show]
BACKGROUND: Very little is known about the genetics of cystic fibrosis (CF) from the Indian subcontinent. The aims of the study were to identify the mutations and study the relation of genotype with phenotype in Indian children with CF. METHODS: A total of 100 patients with CF were screened for mutations in the CFTR gene. These included c.1521_1523delCTT (p.F508del) and c.3849+10 kb C>T mutations followed by single strand conformation polymorphism/heteroduplex analysis for mutations in 19 out of 27 exons of the CFTR gene. RESULTS: At least one mutation was identified in 40 patients. The most common mutation identified was p.F508del; 20 patients were homozygous and 13 heterozygous. In addition, c.3849+10 kb C>T, c.1161delC, and p.S549N were identified in two patients each and p.R352Q, p.R1158X and p.R75Q were identified in one patient each. Three novel mutations, viz. c.1002-7_1002-5delTTT, p.G149X and p.L183I were also identified. Majority of patients who were p.F508del positive originated from Pakistan and north-western states of India. The phenotypes of all patients were classical. Genotype-phenotype correlation revealed that p.F508del positive patients had a more severe disease, manifesting at an earlier age. CONCLUSIONS: A strategy for mutation screening for CF in India must involve testing for p.F508del followed by c.1161delC, c.3849+10 kb C>T and p.S549N. There is a need for large multicentric studies using more sensitive techniques for the identification of mutations in Indian CF patients.

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Sentences [show]
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