Mutation Details for c.1658G>A
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cDNA Name
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c.1658G>A
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Protein Name
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p.Arg553Gln
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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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R553Q
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Other Details
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The amino acid change was found in a German CF patient on the maternal [delta]F508 CF chromosome associated with the haplotype 1-2-1-1-1-2 in J3.11(Msp) - KM.19 (Pst) - XV-2c - metH(Msp) - metH (Taq) - metD(taq). The paternal CF chromosome carries the 553X Stop mutation. So far, the R553Q mutation was not found on a small number of normal and of CF [delta]F508 or non-[delta]F508 chromosomes. Since this mutation occurs in the region of sequence identity with other membrane-associated proteins or transport systems that may contain glutamine instead of a basic amino acid at this position, we assume that this mutation may be neither a polymorphism nor may cayse disease but rather modulates the function of the [delta]F508 CFTR gene product.
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Contributors
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null
1990-04-17
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Institute
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null
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Submitted Phenotype Details
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Patient (M) is 12y, has PI, FEV1=75% (PA colonisation) and elevated sweat-chloride levels (63mM/l).
DeltaF508 was found on the same allele as R553Q, R558X was found on the other allele.
(Dörk et al. 1991 and pers. corr. Dörk)
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Reference
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Dörk et al. 1991b
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