Mutation Details for c.455T>G
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cDNA Name
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c.455T>G
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Protein Name
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p.Met152Arg
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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M152R
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Other Details
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T->G alteration at cDNA 587 in exon 4, resulting in Met (ATG) to Arg (AGG) change at the amino acid residue 152. It also produces a new restriction site with enzyme Mnl I. Restriction digestion of a PCR-amplified fragment of exon 4 with this enzyme further confirmed the presence of this mutation in the patient.
The patient is a 11-month girl born to healthy Japanese parents without consanguineous marriage. At birth, she was found to have meconium ileus and subsequently underwent surgical operation for it. She also has pancreatic insufficiency and pulmonary manifestations such as cough anfd sputum, and exhibited high sweat Cl level (126 mEq/L), indicating that she has a clinical phenotype of typical CF.
Genetic analysis using PCR-SSCP combined with direct sequencing revealed that she is a compound heterozygote with two novel CFTR mutations: 1540del10 and M152R
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Contributors
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Yoshimura K
1999-01-22
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Institute
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Department of Gene Therapy
Institute of DNA Medicine,
Jikei University School of Medicine,
Tokyo, Japan
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Submitted Phenotype Details
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The patient (1yr5m, female) has severe CF, is PI, moderate lung disease. She had meconium ileus, was diagnosed at 2 months of age and has 1540del110 on the other allele.
(Yoshimura et all 2000
and pers. corr. Yoshimura)
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Reference
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Yoshimura 1998
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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