ABCC7 p.Ser753Arg
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PMID: 10581361
[PubMed]
Seibert FS et al: "Influence of phosphorylation by protein kinase A on CFTR at the cell surface and endoplasmic reticulum."
No.
Sentence
Comment
415
The 5.8 kDa fragment from all except the S753R version could still be phosphorylated by PKA.
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ABCC7 p.Ser753Arg 10581361:415:41
status: NEW416 When tested in both e&#a5;ux experiments and by patch-clamping the chloride channel response to PKA of cells expressing 11SA- S753R was reduced a further 40% compared to the 10SA.
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ABCC7 p.Ser753Arg 10581361:416:126
status: NEW
PMID: 17823699
[PubMed]
Pieri Pde C et al: "Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues."
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.
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ABCC7 p.Ser753Arg 17823699:7:39
status: NEW34 The new mutation found in the patient is an AGC to AGG change in DNA leading to a serine-to-arginine substitution at position 753 (S753R) in the CFTR protein; S753 is a consensus phosphorylation site in the regulatory domain of CFTR protein.6 No other classical CFTR mutation was found, but a 5T allele was identified in intron 8 (IVS8-5T) together with an IVS8-9T in the other allele.
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ABCC7 p.Ser753Arg 17823699:34:82
status: NEWX
ABCC7 p.Ser753Arg 17823699:34:131
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.Ser753Arg 17823699:46:38
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.Ser753Arg 17823699:54:259
status: NEW56 Considering the clinical presentation of the patient, S753R might not be a polymorphism once CBAVD was present together with a clear pulmonary phenotype, although not together with sweat-chloride elevation.
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ABCC7 p.Ser753Arg 17823699:56:54
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.Ser753Arg 17823699:81:102
status: NEW