Mutation Details for c.1651G>A
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cDNA Name
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c.1651G>A
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Protein Name
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p.Gly551Ser
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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G551S
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Other Details
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This mutation can be detected using ASOs: normal 5' GAGTGGAGGTCAACG 3', mutant 5' GAGTGGAAGTCAACG 3' with a final wash at 42 degrees celsius in 40 mM NaHPO4, 1 mM EDTA, 0.5 % SDS for 15 minutes. Two patients were found to be homozygous for this mutation. Their parents are second cousins and each carries the G551S mutation. These patients are remarkable in that they have a mild disease without elevated Na+ levels. One patient had decreased lung function, Pseudomonas infections, chronic pancreatitis, clubbing, and is currently 49 years old. This mutation was not found in 363 non-[delta]F508 CF chromosomes, nor in over 700[delta]F508 chromosomes, nor in a small number of normal chromosomes.
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Contributors
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Strong T,
Smit L,
Cole J,
Iannuzzi M,
Tsui LC,
Collins F
1991-02-01
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Institute
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Howard Hughes Medical Institute
Research Laboratories
Ann Arbor, MI, USA
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Submitted Phenotype Details
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(pers.corr. Strong)
One homozygous patient (49, female), diagnosed at 49, with PS, mild pulmonary disease, normal sweat chloride.
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Reference
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Strong et al. 1991
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