ABCC7 p.Gly149Trp
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PMID: 17823699
[PubMed]
Pieri Pde C et al: "Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues."
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Sentence
Comment
7
RESULTS: Two novel missense mutations (S753R and G149W) were found in three patients (two brothers) together with the IVS8-5T allele in hetrozygosis.
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ABCC7 p.Gly149Trp 17823699:7:49
status: NEW41 A glycine-to-tryptophan substitution at protein position 149 (G149W) was detected in both brothers.
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ABCC7 p.Gly149Trp 17823699:41:62
status: NEW46 Case 1 2a 2b Age 30y 32y 27y mutation S753R G149W G149W IVS8-Tn 5T/9T 5T/7T 5T/7T IVS8-TGm 10TG/12TG 10TG/11TG 10TG/11TG polymorphisms M470V M470V M470V 2694T>G 2694T>G Sweat chloride* 26nmol/L 24nmol/L 45nmol/L Seminal Vesicles right hypoplastic normal normal left hypoplastic agenesis agenesis *ref: normal<30nmol/L; borderline 30-60nmol/L; high >60nmol/L DISCUSSION Infertility is an important health problem, affecting 10% of all men in reproductive age around the world.
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ABCC7 p.Gly149Trp 17823699:46:44
status: NEWX
ABCC7 p.Gly149Trp 17823699:46:50
status: NEW54 In our study, we performed a screening of all the exons and splicing of sites of interest of the CFTR gene in eighteen CBAVD patients and two novel mutations were detected: a serine-to-arginine at an alternative phosphorylation site in the regulatory domain (S753R), and a glycine- to-tryptophan substitution at position 149 (G149W) in the second intracellular domain of the CFTR protein.
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ABCC7 p.Gly149Trp 17823699:54:326
status: NEW57 Besides, S753 is one of the ten serine residues submitted to phosphorylation (one in the NBD1 S-422 and nine in the R domain S-660, -670, -700, -712, -737, -753, -768, -795, -813) to exert the primary control of activation of Cl-conductance.27 The second novel mutation found was a G149W.
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ABCC7 p.Gly149Trp 17823699:57:282
status: NEW59 The presence of the same mutation in both brothers and the borderline sweat-chloride level found in one of them, favor G149W as a novel CBAVD Class V CFTR mutation.
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ABCC7 p.Gly149Trp 17823699:59:119
status: NEW81 RESULTADOS: Foram identificadas duas muta&#e7;&#f5;es novas com altera&#e7;&#e3;o de amino&#e1;cidos (S753R and G149W) em 3 pacientes (dois irm&#e3;os) juntamente com o alelo IVS8-5T em heterozigose.
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ABCC7 p.Gly149Trp 17823699:81:112
status: NEW