ABCC7 p.Gly149Trp
| 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). |
| Predicted by SNAP2: | A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (75%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Novel CFTR missense mutations in Brazilian patient... Clinics (Sao Paulo). 2007 Aug;62(4):385-90. Pieri Pde C, Missaglia MT, Roque Jde A, Moreira-Filho CA, Hallak J
Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues.
Clinics (Sao Paulo). 2007 Aug;62(4):385-90., [PMID:17823699]
Abstract [show]
PURPOSE: Screening for mutations in the entire Cystic Fibrosis gene (CFTR) of Brazilian infertile men with congenital absence of vas deferens, in order to prevent transmission of CFTR mutations to offspring with the use of assisted reproductive technologies. METHOD: Specific polymerase chain reaction (PCR) primers were designed to each of the 27 exons and splicing sites of interest followed by single strand conformational polymorphism and Heteroduplex Analysis (SSCP-HA) in precast 12.5% polyacrylamide gels at 7 masculineC and 20 masculineC. Fragments with abnormal SSCP migration pattern were sequenced. RESULTS: Two novel missense mutations (S753R and G149W) were found in three patients (two brothers) together with the IVS8-5T allele in hetrozygosis. CONCLUSION: The available screenings for CF mutations do not include the atypical mutations associated to absence of vas deferens and thus, when these tests fail to find mutations, there is still a genetic risk of affected children with the help of assisted reproduction. We recommend the screening of the whole CFTR gene for these infertile couples, as part of the work-up before assisted reproduction.
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No. 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.
X
ABCC7 p.Gly149Trp 17823699:7:49
status: NEW41 A glycine-to-tryptophan substitution at protein position 149 (G149W) was detected in both brothers.
X
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.
X
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.
X
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.
X
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.
X
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.
X
ABCC7 p.Gly149Trp 17823699:81:112
status: NEW